Annotation Detail
Information
- Associated Genes
- GP1BA
- Associated Variants
-
GP1BA p.Asn57Asp (p.N57D)
(
ENST00000649830.1,
ENST00000329125.6 )
GP1BA p.Asn57Asp (p.N57D) ( ENST00000649830.1, ENST00000329125.6 ) - Associated Disease
- Bernard-Soulier syndrome, type A2, autosomal dominant
- Source Database
- ClinVar
- Description
- NM_000173.7(GP1BA):c.169A>G (p.Asn57Asp) AND Bernard-Soulier syndrome, type A2, autosomal dominant
- ClinVar Allele ID
- 1668341
- ClinVar RefSeq Alternation Syntax
- NM_000173.7:c.169A>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002222138
- ClinVar Disease
- Bernard-Soulier syndrome, type A2, autosomal dominant
- Observed Origin Sample
- unknown
Drugs