Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Lys652Gln (p.K652Q)
(
ENST00000340107.9,
ENST00000352904.6,
ENST00000481110.7,
ENST00000412135.7,
ENST00000440486.8 )
FGFR3 p.Lys652Gln (p.K652Q) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 ) - Associated Disease
- Malignant tumor of urinary bladder
- Source Database
- ClinVar
- Description
- NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln) AND Malignant tumor of urinary bladder
- ClinVar Allele ID
- 31387
- ClinVar RefSeq Alternation Syntax
- NM_001354810.2:c.1951A>C
- ClinVar RefSeq Alternation Syntax
- NM_001163213.2:c.1954A>C
- ClinVar RefSeq Alternation Syntax
- NM_022965.4:c.1612A>C
- ClinVar RefSeq Alternation Syntax
- NM_001354809.2:c.1951A>C
- ClinVar RefSeq Alternation Syntax
- NR_148971.2:n.2374A>C
- ClinVar RefSeq Alternation Syntax
- NM_000142.5:c.1948A>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2007-12-15
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000144153
- ClinVar Disease
- Malignant tumor of urinary bladder
- Observed Origin Sample
- somatic
- Pubmed
- 11314002
- Pubmed
- 11055896
- Pubmed
- 18000903
- Pubmed
- 16912704
Drugs