Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Ter809Leuext*? (p.*809Lext*?)
(
ENST00000340107.9,
ENST00000352904.6,
ENST00000412135.7,
ENST00000440486.8,
ENST00000481110.7 )
FGFR3 p.Ter809Leuext*? (p.*809Lext*?) ( 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 Crouzon syndrome-acanthosis nigricans syndrome epidermal nevus camptodactyly-tall stature-scoliosis-hearing loss syndrome Muenke Syndrome cervical cancer Thanatophoric dysplasia, type 2
- Source Database
- ClinVar
- Description
- NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) AND multiple conditions
- ClinVar Allele ID
- 76470
- ClinVar RefSeq Alternation Syntax
- NM_001354809.2:c.2423G>T
- ClinVar RefSeq Alternation Syntax
- NR_148971.2:n.2846G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354810.2:c.2352G>T
- ClinVar RefSeq Alternation Syntax
- NM_022965.4:c.2084G>T
- ClinVar RefSeq Alternation Syntax
- NM_001163213.2:c.2426G>T
- ClinVar RefSeq Alternation Syntax
- NM_000142.5:c.2420G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-02-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002490635
- 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