Variant: rs149617956 

    present in Gene: MITF
    present in Chromosome: 3
    Position on Chromosome: 69964940
    Alleles of this Variant: G/A

rs149617956 in MITF gene and Anteverted nostril PMID 22012259 2011 A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.

PMID 26650189 2016 Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.

PMID 23167872 2013 Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.

PMID 25803691 2015 Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.

rs149617956 in MITF gene and Attention deficit hyperactivity disorder PMID 22012259 2011 A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.

PMID 23167872 2013 Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.

PMID 26650189 2016 Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.

PMID 25803691 2015 Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.

rs149617956 in MITF gene and Constipation PMID 25803691 2015 Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.

PMID 26650189 2016 Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.

PMID 22012259 2011 A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.

PMID 23167872 2013 Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.

rs149617956 in MITF gene and MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 PMID 23787126 2013 MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.

PMID 22012259 2011 A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.

PMID 26650189 2016 Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.

PMID 24767713 2014 Prevalence of the E318K and V320I MITF germline mutations in Polish cancer patients and multiorgan cancer risk-a population-based study.

PMID 23167872 2013 Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.

PMID 25803691 2015 Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.

PMID 27473757 2016 Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF.

PMID 22080950 2011 A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma.

PMID 24406078 2014 MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors.

PMID 30414346 2019 Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

PMID 28125078 2017 Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.

rs149617956 in MITF gene and Mild microcephaly PMID 26650189 2016 Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.

PMID 25803691 2015 Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.

PMID 22012259 2011 A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.

PMID 23167872 2013 Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.

rs149617956 in MITF gene and Moderate intellectual disability PMID 23167872 2013 Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.

PMID 25803691 2015 Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.

PMID 22012259 2011 A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.

PMID 26650189 2016 Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.

rs149617956 in MITF gene and Narrow face PMID 23167872 2013 Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.

PMID 22012259 2011 A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.

PMID 25803691 2015 Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.

PMID 26650189 2016 Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.

rs149617956 in MITF gene and Neoplastic Syndromes, Hereditary PMID 27473757 2016 Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF.

PMID 26650189 2016 Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.

PMID 24290354 2015 A germline oncogenic MITF mutation and tumor susceptibility.

PMID 23046018 2013 Genetic counseling in melanoma.

PMID 22158021 2011 Cancer genomics: Finding a rare variant.

PMID 23802662 2013 Malignant and benign tumors associated with multiple primary melanomas: just the starting block for the involvement of MITF, PTEN and CDKN2A in multiple cancerogenesis?

PMID 24406078 2014 MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors.

PMID 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

PMID 26800492 2016 Characterization of patients at high risk of melanoma in Austria.

PMID 24767713 2014 Prevalence of the E318K and V320I MITF germline mutations in Polish cancer patients and multiorgan cancer risk-a population-based study.

PMID 22080950 2011 A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma.

PMID 25975176 2015 The lack of E318K MITF germline mutation in Latvian melanoma patients.

PMID 23167872 2013 Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.

PMID 23774529 2014 Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients.

PMID 27680874 2016 The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma.

PMID 25803691 2015 Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.

PMID 2440678 1987 Conformation of cytoplasmic segments of acetylcholine receptor alpha- and beta-subunits probed by monoclonal antibodies: sensitivity of the antibody competition approach.

PMID 24660985 2014 Genotype analysis in Hungarian patients with multiple primary melanoma.

PMID 26999813 2016 The Microphthalmia-Associated Transcription Factor p.E318K Mutation Does Not Play a Major Role in Sporadic Renal Cell Tumors from Caucasian Patients.

PMID 22012259 2011 A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.

PMID 26775776 2016 Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup.

PMID 23787126 2013 MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.

rs149617956 in MITF gene and Speech Disorders PMID 22012259 2011 A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.

PMID 23167872 2013 Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.

PMID 25803691 2015 Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.

PMID 26650189 2016 Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.

rs149617956 in MITF gene and Stereotypic Movement Disorder PMID 25803691 2015 Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.

PMID 23167872 2013 Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.

PMID 26650189 2016 Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.

PMID 22012259 2011 A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.

rs149617956 in MITF gene and Tietz syndrome PMID 27473757 2016 Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF.

PMID 22012259 2011 A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.

PMID 23787126 2013 MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.

PMID 23167872 2013 Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.

PMID 22080950 2011 A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma.

rs149617956 in MITF gene and WAARDENBURG SYNDROME, TYPE IIA PMID 23787126 2013 MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.

PMID 27473757 2016 Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF.

PMID 23167872 2013 Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.

PMID 22080950 2011 A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma.

PMID 22012259 2011 A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.