Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Ter809Glyext*? (p.*809Gext*?)
(
ENST00000440486.8,
ENST00000352904.6,
ENST00000481110.7,
ENST00000340107.9,
ENST00000412135.7 )
FGFR3 p.Ter809Glyext*? (p.*809Gext*?) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 ) - Associated Disease
- Thanatophoric dysplasia type 1
- Source Database
- ClinVar
- Description
- NM_000142.5(FGFR3):c.2419T>G (p.Ter807Gly) AND Thanatophoric dysplasia type 1
- ClinVar Allele ID
- 31373
- ClinVar RefSeq Alternation Syntax
- NR_148971.2:n.2845T>G
- ClinVar RefSeq Alternation Syntax
- NM_001354809.2:c.2422T>G
- ClinVar RefSeq Alternation Syntax
- NM_022965.4:c.2083T>G
- ClinVar RefSeq Alternation Syntax
- NM_001354810.2:c.2351T>G
- ClinVar RefSeq Alternation Syntax
- NM_001163213.2:c.2425T>G
- ClinVar RefSeq Alternation Syntax
- NM_000142.5:c.2419T>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-11-18
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000017737
- ClinVar Disease
- Thanatophoric dysplasia type 1
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 7647778
Drugs