Annotation Detail

Information
Associated Genes
ROCK2
Associated Variants
ROCK2 p.Thr431Asn (p.T431N) ( ENST00000315872.11, ENST00000401753.5, ENST00000697752.1 )
ROCK2 p.Thr431Asn (p.T431N) ( ENST00000315872.11, ENST00000401753.5, ENST00000697752.1 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_004850.5(ROCK2):c.1292C>A (p.Thr431Asn) AND not specified
ClinVar Allele ID
389439
ClinVar RefSeq Alternation Syntax
NM_001321643.2:c.1034C>A
ClinVar RefSeq Alternation Syntax
NM_004850.5:c.1292C>A
Clinical Significance Description
Benign
Clinical Significance Last Update
2016-03-29
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000454422
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs