Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Lys652Met (p.K652M)
(
ENST00000481110.7,
ENST00000412135.7,
ENST00000440486.8,
ENST00000340107.9,
ENST00000352904.6 )
FGFR3 p.Lys652Met (p.K652M) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 ) - Associated Disease
- SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS
- Source Database
- ClinVar
- Description
- NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS
- ClinVar Allele ID
- 31380
- ClinVar RefSeq Alternation Syntax
- NM_001354810.2:c.1952A>T
- ClinVar RefSeq Alternation Syntax
- NM_001163213.2:c.1955A>T
- ClinVar RefSeq Alternation Syntax
- NM_022965.4:c.1613A>T
- ClinVar RefSeq Alternation Syntax
- NM_001354809.2:c.1952A>T
- ClinVar RefSeq Alternation Syntax
- NR_148971.2:n.2375A>T
- ClinVar RefSeq Alternation Syntax
- NM_000142.5:c.1949A>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2008-01-15
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000017749
- ClinVar Disease
- SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS
- Observed Origin Sample
- unknown
- Pubmed
- 10671061
- Pubmed
- 18076102
- Pubmed
- 10053006
- Pubmed
- 9207791
Drugs