Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Tyr375Cys (p.Y375C)
(
ENST00000340107.9,
ENST00000352904.6,
ENST00000412135.7,
ENST00000440486.8,
ENST00000481110.7 )
FGFR3 p.Tyr375Cys (p.Y375C) ( ENST00000412135.7, ENST00000340107.9, ENST00000352904.6, ENST00000440486.8, ENST00000481110.7 ) - Associated Disease
- Thanatophoric dysplasia type 1
- Source Database
- ClinVar
- Description
- NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) AND Thanatophoric dysplasia type 1
- ClinVar Allele ID
- 31381
- ClinVar RefSeq Alternation Syntax
- NM_000142.5:c.1118A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354810.2:c.1118A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354809.2:c.1118A>G
- ClinVar RefSeq Alternation Syntax
- NM_022965.4:c.931-452A>G
- ClinVar RefSeq Alternation Syntax
- NM_001163213.2:c.1124A>G
- ClinVar RefSeq Alternation Syntax
- NR_148971.2:n.1544A>G
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2021-11-22
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000017751
- ClinVar Disease
- Thanatophoric dysplasia type 1
- Observed Origin Sample
- germline
- Observed Origin Sample
- de novo
- Observed Origin Sample
- unknown
- Pubmed
- 9843049
- Pubmed
- 8845844
Drugs