Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Asn542Lys (p.N542K)
(
ENST00000340107.9,
ENST00000352904.6,
ENST00000412135.7,
ENST00000440486.8,
ENST00000481110.7 )
FGFR3 p.Asn542Lys (p.N542K) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 ) - Associated Disease
- hypochondroplasia
- Source Database
- ClinVar
- Description
- NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) AND Hypochondroplasia
- ClinVar Allele ID
- 31377
- ClinVar RefSeq Alternation Syntax
- NM_001163213.2:c.1626C>G
- ClinVar RefSeq Alternation Syntax
- NM_001354810.2:c.1623C>G
- ClinVar RefSeq Alternation Syntax
- NM_022965.4:c.1284C>G
- ClinVar RefSeq Alternation Syntax
- NM_001354809.2:c.1623C>G
- ClinVar RefSeq Alternation Syntax
- NR_148971.2:n.2046C>G
- ClinVar RefSeq Alternation Syntax
- NM_000142.5:c.1620C>G
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2022-09-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000017741
- ClinVar Disease
- Hypochondroplasia
- Observed Origin Sample
- germline
- Observed Origin Sample
- de novo
- Pubmed
- 10395236
- Pubmed
- 7670477
- Pubmed
- 10361991
- Pubmed
- 8589686
Drugs