Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Ser84Leu (p.S84L)
(
ENST00000352904.6,
ENST00000440486.8,
ENST00000412135.7,
ENST00000340107.9,
ENST00000481110.7 )
FGFR3 p.Ser84Leu (p.S84L) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 ) - Associated Disease
- Muenke Syndrome Crouzon syndrome-acanthosis nigricans syndrome camptodactyly-tall stature-scoliosis-hearing loss syndrome Thanatophoric dysplasia, type 2 Thanatophoric dysplasia type 1 achondroplasia hypochondroplasia Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Levy-Hollister syndrome
- Source Database
- ClinVar
- Description
- NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) AND multiple conditions
- ClinVar Allele ID
- 31397
- ClinVar RefSeq Alternation Syntax
- NR_148971.2:n.526C>T
- ClinVar RefSeq Alternation Syntax
- NM_001163213.2:c.251C>T
- ClinVar RefSeq Alternation Syntax
- NM_022965.4:c.251C>T
- ClinVar RefSeq Alternation Syntax
- NM_000142.5:c.251C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354809.2:c.251C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354810.2:c.251C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2017-12-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000850610
- ClinVar Disease
- Achondroplasia
- ClinVar Disease
- Thanatophoric dysplasia type 1
- ClinVar Disease
- Hypochondroplasia
- ClinVar Disease
- Crouzon syndrome-acanthosis nigricans syndrome
- ClinVar Disease
- Muenke syndrome
- ClinVar Disease
- Thanatophoric dysplasia, type 2
- ClinVar Disease
- Camptodactyly-tall stature-scoliosis-hearing loss syndrome
- ClinVar Disease
- Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
- ClinVar Disease
- Levy-Hollister syndrome
- Observed Origin Sample
- germline
Drugs