Annotation Detail

Information
Associated Genes
CASP10
Associated Variants
CASP10 p.Val410Ile (p.V410I) ( ENST00000272879.9, ENST00000286186.11, ENST00000313728.12, ENST00000346817.10, ENST00000448480.1, ENST00000696199.1 )
CASP10 p.Val410Ile (p.V410I) ( ENST00000272879.9, ENST00000286186.11, ENST00000313728.12, ENST00000346817.10, ENST00000448480.1, ENST00000696199.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_032977.4(CASP10):c.1228G>A (p.Val410Ile) AND not provided
ClinVar Allele ID
34579
ClinVar RefSeq Alternation Syntax
NM_001230.5:c.1099G>A
ClinVar RefSeq Alternation Syntax
NM_001206542.2:c.1099G>A
ClinVar RefSeq Alternation Syntax
NM_032976.4:c.*314G>A
ClinVar RefSeq Alternation Syntax
NM_032977.4:c.1228G>A
ClinVar RefSeq Alternation Syntax
NM_001206524.2:c.1027G>A
ClinVar RefSeq Alternation Syntax
NM_032974.5:c.1228G>A
Clinical Significance Description
Benign
Clinical Significance Last Update
2019-04-15
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001572966
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs