Annotation Detail
Information
- Associated Genes
- ANO5
- Associated Variants
-
ANO5 p.Phe507SerfsTer6 (p.F507Sfs*6)
(
ENST00000683411.1,
ENST00000682341.1,
ENST00000683437.1,
ENST00000682266.1,
ENST00000683197.1,
ENST00000324559.9,
ENST00000684663.1 )
ANO5 p.Phe507SerfsTer6 (p.F507Sfs*6) ( ENST00000324559.9, ENST00000682266.1, ENST00000682341.1, ENST00000683197.1, ENST00000683411.1, ENST00000683437.1, ENST00000684663.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_213599.3(ANO5):c.1520del (p.Phe507fs) AND not provided
- ClinVar Allele ID
- 191740
- ClinVar RefSeq Alternation Syntax
- NM_001142649.2:c.1517del
- ClinVar RefSeq Alternation Syntax
- NM_213599.3:c.1520del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-09-07
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000174967
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs