NM_001614.5(ACTG1):c.404C>T (p.Ala135Val) AND Baraitser-Winter Syndrome 2
| Significance: | Pathogenic |
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| ClinVar: | RCV000022424 |
Variant: NM_001614.5(ACTG1):c.404C>T (p.Ala135Val) |
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| Type: | Variant |
Allele: NM_001614.5(ACTG1):c.404C>T (p.Ala135Val) 38541 |
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| Gene: | ACTG1 |
| 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 |
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| Disease: | Baraitser-Winter Syndrome 2 |
Citation |
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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 |
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