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NM_001614.5(ACTG1):c.404C>T (p.Ala135Val) AND Baraitser-Winter Syndrome 2

Significance: Pathogenic
ClinVar: RCV000022424

Variant: NM_001614.5(ACTG1):c.404C>T (p.Ala135Val)

Type: Variant
Allele: NM_001614.5(ACTG1):c.404C>T (p.Ala135Val) 38541
Gene:
Type: single nucleotide variant
Location: Chr17: 81511586 - assembly GRCh38
Chr17: 79478612 - assembly GRCh37
References: dbSNP: 11549190
OMIM: 102560.0011
UniProtKB/Swiss-Prot: VAR_067815
UniProtKB: P63261#VAR_067815

Condition

Disease: Baraitser-Winter Syndrome 2

Citation

    In an individual with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) identified a heterozygous C-to-T transition at nucleotide 404 of the ACTG1 gene, resulting in an ala-to-val substitution at codon 135 (A135V). This mutation occurred de novo in the patient and was not observed in 192 other exomes sequenced.
PMID:22366783