Variant: rs1555666392 

    present in Gene: ACTG1
    present in Chromosome: 17
    Position on Chromosome: 81510814
    Alleles of this Variant: C/T

rs1555666392 in ACTG1 gene and Dysmorphic features PMID 27240540 2016 Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

PMID 9665849 1998 Domain motions in actin.

PMID 28496999 2017 The Clinical Manifestations and Genetic Implications of Baraitser-Winter Syndrome Type 2.

PMID 25624931 2015 Baraitser and Winter syndrome with growth hormone deficiency.

PMID 27625340 2017 Baraitser-Winter cerebrofrontofacial syndrome.

PMID 2395459 1990 Atomic structure of the actin:DNase I complex.

PMID 25052316 2015 Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

PMID 26188271 2015 Rare ACTG1 variants in fetal microlissencephaly.

PMID 19419963 2009 Allele-specific effects of human deafness gamma-actin mutations (DFNA20/26) on the actin/cofilin interaction.

PMID 22366783 2012 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

PMID 13680526 2003 Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).

PMID 28493397 2017 A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.

PMID 15194427 2004 A novel role for non-muscle gamma-actin in skeletal muscle sarcomere assembly.

rs1555666392 in ACTG1 gene and Multiple congenital anomalies PMID 28493397 2017 A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.

PMID 28496999 2017 The Clinical Manifestations and Genetic Implications of Baraitser-Winter Syndrome Type 2.

PMID 9665849 1998 Domain motions in actin.

PMID 27625340 2017 Baraitser-Winter cerebrofrontofacial syndrome.

PMID 19419963 2009 Allele-specific effects of human deafness gamma-actin mutations (DFNA20/26) on the actin/cofilin interaction.

PMID 13680526 2003 Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).

PMID 27240540 2016 Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

PMID 25052316 2015 Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

PMID 25624931 2015 Baraitser and Winter syndrome with growth hormone deficiency.

PMID 22366783 2012 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

PMID 26188271 2015 Rare ACTG1 variants in fetal microlissencephaly.

PMID 2395459 1990 Atomic structure of the actin:DNase I complex.

PMID 15194427 2004 A novel role for non-muscle gamma-actin in skeletal muscle sarcomere assembly.