Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Arg714His (p.R714H)
(
ENST00000352904.6,
ENST00000340107.9,
ENST00000412135.7,
ENST00000440486.8,
ENST00000481110.7 )
FGFR3 p.Arg714His (p.R714H) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 ) - Associated Disease
- sarcoma
- Source Database
- ClinVar
- Description
- NM_000142.5(FGFR3):c.2135G>A (p.Arg712His) AND Sarcoma
- ClinVar Allele ID
- 136717
- ClinVar RefSeq Alternation Syntax
- NM_001354810.2:c.2067G>A
- ClinVar RefSeq Alternation Syntax
- NM_001163213.2:c.2141G>A
- ClinVar RefSeq Alternation Syntax
- NM_022965.4:c.1799G>A
- ClinVar RefSeq Alternation Syntax
- NR_148971.2:n.2561G>A
- ClinVar RefSeq Alternation Syntax
- NM_000142.5:c.2135G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354809.2:c.2138G>A
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000119370
- ClinVar Disease
- Sarcoma
- Observed Origin Sample
- somatic
Drugs