Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Pro250Arg (p.P250R)
(
ENST00000340107.9,
ENST00000412135.7,
ENST00000352904.6,
ENST00000440486.8,
ENST00000481110.7 )
FGFR3 p.Pro250Arg (p.P250R) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 ) - Associated Disease
- achondroplasia hypochondroplasia Muenke Syndrome Thanatophoric dysplasia type 1 Crouzon syndrome-acanthosis nigricans syndrome
- Source Database
- ClinVar
- Description
- NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND multiple conditions
- ClinVar Allele ID
- 31379
- ClinVar RefSeq Alternation Syntax
- NM_000142.5:c.749C>G
- ClinVar RefSeq Alternation Syntax
- NM_001354810.2:c.749C>G
- ClinVar RefSeq Alternation Syntax
- NM_001163213.2:c.749C>G
- ClinVar RefSeq Alternation Syntax
- NM_001354809.2:c.749C>G
- ClinVar RefSeq Alternation Syntax
- NR_148971.2:n.1024C>G
- ClinVar RefSeq Alternation Syntax
- NM_022965.4:c.749C>G
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003483434
- ClinVar Disease
- Achondroplasia
- ClinVar Disease
- Thanatophoric dysplasia type 1
- ClinVar Disease
- Hypochondroplasia
- ClinVar Disease
- Crouzon syndrome-acanthosis nigricans syndrome
- ClinVar Disease
- Muenke syndrome
- Observed Origin Sample
- unknown
Drugs