Annotation Detail

Information
Associated Genes
RET
Associated Variants
RET p.Cys634Ser (p.C634S) ( ENST00000615310.5, ENST00000355710.8, ENST00000713926.1, ENST00000340058.6 )
RET p.Cys634Ser (p.C634S) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_020975.6(RET):c.1901G>C (p.Cys634Ser) AND not provided
ClinVar Allele ID
28949
ClinVar RefSeq Alternation Syntax
NM_001406794.1:c.452G>C
ClinVar RefSeq Alternation Syntax
NM_001406772.1:c.1505G>C
ClinVar RefSeq Alternation Syntax
NM_001406786.1:c.875G>C
ClinVar RefSeq Alternation Syntax
NM_001406782.1:c.1004G>C
ClinVar RefSeq Alternation Syntax
NM_001406779.1:c.1004G>C
ClinVar RefSeq Alternation Syntax
NM_001406760.1:c.1901G>C
ClinVar RefSeq Alternation Syntax
NM_001406771.1:c.1463G>C
ClinVar RefSeq Alternation Syntax
NM_001406793.1:c.452G>C
ClinVar RefSeq Alternation Syntax
NM_001406773.1:c.1463G>C
ClinVar RefSeq Alternation Syntax
NM_001406790.1:c.716G>C
ClinVar RefSeq Alternation Syntax
NM_001355216.2:c.1139G>C
ClinVar RefSeq Alternation Syntax
NM_001406783.1:c.875G>C
ClinVar RefSeq Alternation Syntax
NM_001406759.1:c.1901G>C
ClinVar RefSeq Alternation Syntax
NM_001406761.1:c.1772G>C
ClinVar RefSeq Alternation Syntax
NM_001406788.1:c.716G>C
ClinVar RefSeq Alternation Syntax
NM_001406744.1:c.1901G>C
ClinVar RefSeq Alternation Syntax
NM_001406792.1:c.452G>C
ClinVar RefSeq Alternation Syntax
NM_001406743.1:c.1901G>C
ClinVar RefSeq Alternation Syntax
NM_001406762.1:c.1772G>C
ClinVar RefSeq Alternation Syntax
NM_001406764.1:c.1772G>C
ClinVar RefSeq Alternation Syntax
NM_001406784.1:c.911G>C
ClinVar RefSeq Alternation Syntax
NM_000323.2:c.1901G>C
ClinVar RefSeq Alternation Syntax
NM_001406766.1:c.1613G>C
ClinVar RefSeq Alternation Syntax
NM_001406767.1:c.1613G>C
ClinVar RefSeq Alternation Syntax
NM_001406770.1:c.1613G>C
ClinVar RefSeq Alternation Syntax
NM_001406785.1:c.884G>C
ClinVar RefSeq Alternation Syntax
NM_001406777.1:c.1175G>C
ClinVar RefSeq Alternation Syntax
NM_020630.7:c.1901G>C
ClinVar RefSeq Alternation Syntax
NM_001406769.1:c.1505G>C
ClinVar RefSeq Alternation Syntax
NM_001406789.1:c.716G>C
ClinVar RefSeq Alternation Syntax
NM_001406781.1:c.1004G>C
ClinVar RefSeq Alternation Syntax
NM_020629.2:c.1901G>C
ClinVar RefSeq Alternation Syntax
NM_001406778.1:c.1175G>C
ClinVar RefSeq Alternation Syntax
NM_001406780.1:c.1004G>C
ClinVar RefSeq Alternation Syntax
NM_001406791.1:c.596G>C
ClinVar RefSeq Alternation Syntax
NM_001406775.1:c.1175G>C
ClinVar RefSeq Alternation Syntax
NM_001406776.1:c.1175G>C
ClinVar RefSeq Alternation Syntax
NM_001406774.1:c.1376G>C
ClinVar RefSeq Alternation Syntax
NM_020975.6:c.1901G>C
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2021-07-13
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV002251730
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs