Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Ter809Argext*? (p.*809Rext*?)
(
ENST00000340107.9,
ENST00000352904.6,
ENST00000412135.7,
ENST00000440486.8,
ENST00000481110.7 )
FGFR3 p.Ter809Argext*? (p.*809Rext*?) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 ) - Associated Disease
- Thanatophoric dysplasia type 1 colorectal cancer Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Levy-Hollister syndrome Germ cell tumor of testis achondroplasia hypochondroplasia Malignant tumor of urinary bladder epidermal nevus camptodactyly-tall stature-scoliosis-hearing loss syndrome Crouzon syndrome-acanthosis nigricans syndrome cervical cancer Muenke Syndrome Thanatophoric dysplasia, type 2
- Source Database
- ClinVar
- Description
- NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) AND multiple conditions
- ClinVar Allele ID
- 31374
- ClinVar RefSeq Alternation Syntax
- NM_000142.5:c.2419T>A
- ClinVar RefSeq Alternation Syntax
- NR_148971.2:n.2845T>A
- ClinVar RefSeq Alternation Syntax
- NM_001354809.2:c.2422T>A
- ClinVar RefSeq Alternation Syntax
- NM_001163213.2:c.2425T>A
- ClinVar RefSeq Alternation Syntax
- NM_022965.4:c.2083T>A
- ClinVar RefSeq Alternation Syntax
- NM_001354810.2:c.2351T>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-12-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002504801
- ClinVar Disease
- Thanatophoric dysplasia type 1
- ClinVar Disease
- Crouzon syndrome-acanthosis nigricans syndrome
- ClinVar Disease
- Muenke syndrome
- ClinVar Disease
- Camptodactyly-tall stature-scoliosis-hearing loss syndrome
- ClinVar Disease
- Colorectal cancer
- ClinVar Disease
- Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
- 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
- Germ cell tumor of testis
- ClinVar Disease
- Cervical cancer
- ClinVar Disease
- Levy-Hollister syndrome
- Observed Origin Sample
- unknown
Drugs