Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Ter809Cysext*? (p.*809Cext*?)
(
ENST00000340107.9,
ENST00000352904.6,
ENST00000412135.7,
ENST00000440486.8,
ENST00000481110.7 )
FGFR3 p.Ter809Cysext*? (p.*809Cext*?) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 ) - Source Database
- ClinVar
- Description
- NM_000142.5(FGFR3):c.2421A>T (p.Ter807Cys) AND See cases
- ClinVar Allele ID
- 31375
- ClinVar RefSeq Alternation Syntax
- NM_001163213.2:c.2427A>T
- ClinVar RefSeq Alternation Syntax
- NM_000142.5:c.2421A>T
- ClinVar RefSeq Alternation Syntax
- NM_001354809.2:c.2424A>T
- ClinVar RefSeq Alternation Syntax
- NR_148971.2:n.2847A>T
- ClinVar RefSeq Alternation Syntax
- NM_001354810.2:c.2353A>T
- ClinVar RefSeq Alternation Syntax
- NM_022965.4:c.2085A>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-11-30
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003155032
- Observed Origin Sample
- germline
Drugs