Annotation Detail

Information
Associated Genes
CASR
Associated Variants
CASR p.Arg227Gln (p.R227Q) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Arg227Gln (p.R227Q) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000388.4(CASR):c.680G>A (p.Arg227Gln) AND not provided
ClinVar Allele ID
23370
ClinVar RefSeq Alternation Syntax
NM_001178065.2:c.680G>A
ClinVar RefSeq Alternation Syntax
NM_000388.4:c.680G>A
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2017-05-03
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000516668
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs