Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Arg248Cys (p.R248C)
(
ENST00000481110.7,
ENST00000340107.9,
ENST00000352904.6,
ENST00000412135.7,
ENST00000440486.8 )
FGFR3 p.Arg248Cys (p.R248C) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 ) - Associated Disease
- Muenke Syndrome Levy-Hollister syndrome Malignant tumor of testis Crouzon syndrome-acanthosis nigricans syndrome camptodactyly-tall stature-scoliosis-hearing loss syndrome Carcinoma of colon epidermal nevus Malignant tumor of urinary bladder hypochondroplasia Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Thanatophoric dysplasia, type 2 Thanatophoric dysplasia type 1 cervical cancer achondroplasia
- Source Database
- ClinVar
- Description
- NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND multiple conditions
- ClinVar Allele ID
- 31371
- ClinVar RefSeq Alternation Syntax
- NR_148971.2:n.1017C>T
- ClinVar RefSeq Alternation Syntax
- NM_001163213.2:c.742C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354809.2:c.742C>T
- ClinVar RefSeq Alternation Syntax
- NM_000142.5:c.742C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354810.2:c.742C>T
- ClinVar RefSeq Alternation Syntax
- NM_022965.4:c.742C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000763118
- ClinVar Disease
- Thanatophoric dysplasia type 1
- ClinVar Disease
- Carcinoma of colon
- ClinVar Disease
- Crouzon syndrome-acanthosis nigricans syndrome
- ClinVar Disease
- Muenke syndrome
- ClinVar Disease
- Camptodactyly-tall stature-scoliosis-hearing loss syndrome
- ClinVar Disease
- Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
- ClinVar Disease
- Malignant tumor of testis
- ClinVar Disease
- Epidermal nevus
- ClinVar Disease
- Achondroplasia
- ClinVar Disease
- Hypochondroplasia
- ClinVar Disease
- Malignant tumor of urinary bladder
- ClinVar Disease
- Thanatophoric dysplasia, type 2
- ClinVar Disease
- Cervical cancer
- ClinVar Disease
- Levy-Hollister syndrome
- Observed Origin Sample
- unknown
Drugs