Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Asn542Ser (p.N542S)
(
ENST00000340107.9,
ENST00000352904.6,
ENST00000412135.7,
ENST00000440486.8,
ENST00000481110.7 )
FGFR3 p.Asn542Ser (p.N542S) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 ) - Associated Disease
- Inborn genetic diseases
- Source Database
- ClinVar
- Description
- NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser) AND Inborn genetic diseases
- ClinVar Allele ID
- 31388
- ClinVar RefSeq Alternation Syntax
- NM_001163213.2:c.1625A>G
- ClinVar RefSeq Alternation Syntax
- NM_000142.5:c.1619A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354810.2:c.1622A>G
- ClinVar RefSeq Alternation Syntax
- NR_148971.2:n.2045A>G
- ClinVar RefSeq Alternation Syntax
- NM_022965.4:c.1283A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354809.2:c.1622A>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2016-04-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000623459
- ClinVar Disease
- Inborn genetic diseases
- Observed Origin Sample
- germline
Drugs