Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Asn542Lys (p.N542K)
(
ENST00000340107.9,
ENST00000481110.7,
ENST00000352904.6,
ENST00000412135.7,
ENST00000440486.8 )
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>A (p.Asn540Lys) AND Hypochondroplasia
- ClinVar Allele ID
- 31376
- ClinVar RefSeq Alternation Syntax
- NM_000142.5:c.1620C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354809.2:c.1623C>A
- ClinVar RefSeq Alternation Syntax
- NM_001163213.2:c.1626C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354810.2:c.1623C>A
- ClinVar RefSeq Alternation Syntax
- NR_148971.2:n.2046C>A
- ClinVar RefSeq Alternation Syntax
- NM_022965.4:c.1284C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-22
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000017740
- ClinVar Disease
- Hypochondroplasia
- Observed Origin Sample
- germline
- Observed Origin Sample
- de novo
- Observed Origin Sample
- unknown
- Pubmed
- 9672519
- Pubmed
- 10360393
- Pubmed
- 9450868
- Pubmed
- 10360392
- Pubmed
- 7670477
- Pubmed
- 4697848
- Pubmed
- 8589686
- Pubmed
- 9842995
Drugs