present in Gene: NALCN
present in Chromosome: 13
Position on Chromosome: 101089846
Alleles of this Variant: C/T
rs869312873 in
NALCN gene and
Abnormal pattern of respiration
PMID 26923739 2016 A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.
rs869312873 in
NALCN gene and
Cachexia
PMID 26923739 2016 A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.
rs869312873 in
NALCN gene and
Seizures
PMID 26923739 2016 A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.
rs869312873 in
NALCN gene and
Severe intellectual disability
PMID 26923739 2016 A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.
rs869312873 in
NALCN gene and
Strabismus
PMID 26923739 2016 A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.