Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Lys652Asn (p.K652N)
(
ENST00000340107.9,
ENST00000352904.6,
ENST00000412135.7,
ENST00000440486.8,
ENST00000481110.7 )
FGFR3 p.Lys652Asn (p.K652N) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 ) - Associated Disease
- Thanatophoric dysplasia type 1 colorectal cancer hypochondroplasia Malignant tumor of urinary bladder Muenke Syndrome Thanatophoric dysplasia, type 2 Germ cell tumor of testis achondroplasia cervical cancer Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Crouzon syndrome-acanthosis nigricans syndrome camptodactyly-tall stature-scoliosis-hearing loss syndrome epidermal nevus Levy-Hollister syndrome
- Source Database
- ClinVar
- Description
- NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND multiple conditions
- ClinVar Allele ID
- 31386
- ClinVar RefSeq Alternation Syntax
- NM_001354809.2:c.1953G>C
- ClinVar RefSeq Alternation Syntax
- NR_148971.2:n.2376G>C
- ClinVar RefSeq Alternation Syntax
- NM_022965.4:c.1614G>C
- ClinVar RefSeq Alternation Syntax
- NM_000142.5:c.1950G>C
- ClinVar RefSeq Alternation Syntax
- NM_001163213.2:c.1956G>C
- ClinVar RefSeq Alternation Syntax
- NM_001354810.2:c.1953G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-08-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002496393
- 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