Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Asn542Thr (p.N542T)
(
ENST00000412135.7,
ENST00000481110.7,
ENST00000352904.6,
ENST00000340107.9,
ENST00000440486.8 )
FGFR3 p.Asn542Thr (p.N542T) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000142.5(FGFR3):c.1619A>C (p.Asn540Thr) AND not provided
- ClinVar Allele ID
- 31383
- ClinVar RefSeq Alternation Syntax
- NM_000142.5:c.1619A>C
- ClinVar RefSeq Alternation Syntax
- NM_001354810.2:c.1622A>C
- ClinVar RefSeq Alternation Syntax
- NM_001354809.2:c.1622A>C
- ClinVar RefSeq Alternation Syntax
- NM_001163213.2:c.1625A>C
- ClinVar RefSeq Alternation Syntax
- NR_148971.2:n.2045A>C
- ClinVar RefSeq Alternation Syntax
- NM_022965.4:c.1283A>C
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2022-03-17
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001549822
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs