Annotation Detail

Information

Associated Genes: FGFR3
Associated Variants: FGFR3 p.Gly382Arg (p.G382R) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 )
FGFR3 p.Gly382Arg (p.G382R) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 )
Associated Disease: achondroplasia
Source Database: ClinVar
Description: NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) AND Achondroplasia
ClinVar Allele ID: 31366
ClinVar RefSeq Alternation Syntax: NM_001354809.2:c.1138G>A
ClinVar RefSeq Alternation Syntax: NM_000142.5:c.1138G>A
ClinVar RefSeq Alternation Syntax: NR_148971.2:n.1564G>A
ClinVar RefSeq Alternation Syntax: NM_022965.4:c.931-432G>A
ClinVar RefSeq Alternation Syntax: NM_001163213.2:c.1144G>A
ClinVar RefSeq Alternation Syntax: NM_001354810.2:c.1138G>A
Clinical Significance Description: Pathogenic
Clinical Significance Last Update: 2024-03-14
Clinical Significance Review Status: criteria provided, multiple submitters, no conflicts
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000017724
ClinVar Disease: Achondroplasia
Observed Origin Sample: germline
Observed Origin Sample: de novo
Observed Origin Sample: unknown
Pubmed: 15517832
Pubmed: 7649548
Pubmed: 11186939
Pubmed: 7913883
Pubmed: 21324899
Pubmed: 11186940
Pubmed: 11030304
Pubmed: 16766665
Pubmed: 16841094
Pubmed: 18266238
Pubmed: 20624921
Pubmed: 8673103
Pubmed: 8078586

Drugs