Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Gln487Arg (p.Q487R)
(
ENST00000340107.9,
ENST00000352904.6,
ENST00000412135.7,
ENST00000440486.8,
ENST00000481110.7 )
FGFR3 p.Asn542Lys (p.N542K) ( ENST00000340107.9, ENST00000481110.7, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8 )
FGFR3 p.Gln487Arg (p.Q487R) ( 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
- Thanatophoric dysplasia type 1
- Source Database
- ClinVar
- Description
- NM_000142.4(FGFR3):c.[1454A>G;1620C>A] AND Thanatophoric dysplasia type 1
- ClinVar Allele ID
- 31376
- ClinVar Allele ID
- 38478
- ClinVar RefSeq Alternation Syntax
- NM_000142.5:c.1454A>G
- ClinVar RefSeq Alternation Syntax
- NM_000142.5:c.1620C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354809.2:c.1623C>A
- ClinVar RefSeq Alternation Syntax
- NR_148971.2:n.1880A>G
- ClinVar RefSeq Alternation Syntax
- NM_001163213.2:c.1460A>G
- ClinVar RefSeq Alternation Syntax
- NM_001163213.2:c.1626C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354810.2:c.1623C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354809.2:c.1457A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354810.2:c.1457A>G
- ClinVar RefSeq Alternation Syntax
- NM_022965.4:c.1118A>G
- 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
- 2009-06-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000017771
- ClinVar Disease
- Thanatophoric dysplasia type 1
- Observed Origin Sample
- germline
- Pubmed
- 19449430
Drugs