Annotation Detail
Information
- Associated Genes
- ATP6V0A2
- Associated Variants
-
ATP6V0A2 p.Ser157= (p.S157=)
(
ENST00000330342.8,
ENST00000613625.5 )
ATP6V0A2 p.Ser157= (p.S157=) ( ENST00000330342.8, ENST00000613625.5 ) - Associated Disease
- Cutis laxa with osteodystrophy
- Source Database
- ClinVar
- Description
- NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=) AND Cutis laxa with osteodystrophy
- ClinVar Allele ID
- 101424
- ClinVar RefSeq Alternation Syntax
- NM_012463.4:c.471T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-07-14
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000369580
- ClinVar Disease
- Cutis laxa with osteodystrophy
- Observed Origin Sample
- germline
Drugs