Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Ala393Glu (p.A393E)
(
ENST00000352904.6,
ENST00000412135.7,
ENST00000440486.8,
ENST00000481110.7,
ENST00000340107.9 )
FGFR3 p.Ala393Glu (p.A393E) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000481110.7, ENST00000440486.8 ) - Associated Disease
- Crouzon syndrome-acanthosis nigricans syndrome
- Source Database
- ClinVar
- Description
- NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu) AND Crouzon syndrome-acanthosis nigricans syndrome
- ClinVar Allele ID
- 31368
- ClinVar RefSeq Alternation Syntax
- NM_001354809.2:c.1172C>A
- ClinVar RefSeq Alternation Syntax
- NM_022965.4:c.931-398C>A
- ClinVar RefSeq Alternation Syntax
- NM_001163213.2:c.1178C>A
- ClinVar RefSeq Alternation Syntax
- NR_148971.2:n.1598C>A
- ClinVar RefSeq Alternation Syntax
- NM_000142.5:c.1172C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354810.2:c.1172C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-07-10
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000017726
- ClinVar Disease
- Crouzon syndrome-acanthosis nigricans syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- de novo
- Pubmed
- 7493034
- Pubmed
- 17935505
Drugs