Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Ter809Trpext*? (p.*809Wext*?)
(
ENST00000340107.9,
ENST00000352904.6,
ENST00000412135.7,
ENST00000440486.8,
ENST00000481110.7 )
FGFR3 p.Ter809Trpext*? (p.*809Wext*?) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000142.5(FGFR3):c.2421A>G (p.Ter807Trp) AND not provided
- ClinVar Allele ID
- 76472
- ClinVar RefSeq Alternation Syntax
- NM_001354810.2:c.2353A>G
- ClinVar RefSeq Alternation Syntax
- NM_022965.4:c.2085A>G
- ClinVar RefSeq Alternation Syntax
- NR_148971.2:n.2847A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354809.2:c.2424A>G
- ClinVar RefSeq Alternation Syntax
- NM_000142.5:c.2421A>G
- ClinVar RefSeq Alternation Syntax
- NM_001163213.2:c.2427A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-11-17
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001569868
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs