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Variant : CV31387 (NM_000142.4(FGFR3):c.1948A>C (p.Lys650Gln)) Homo sapiens

Symbol: CV31387
Name: NM_000142.4(FGFR3):c.1948A>C (p.Lys650Gln)
Condition: Acanthosis nigricans [RCV000430843]|Bladder cancer, somatic [RCV000144153]|Bladder carcinoma [RCV000437923]|Craniosynostosis [RCV000527452]|Hypochondroplasia [RCV000017757]|Malignant tumor of urinary bladder [RCV000017760]|Malignant tumor of urinary bladder [RCV000144153]|Urinary Bladder Neoplasms [RCV000144153]
Clinical Significance: pathogenic|likely pathogenic|uncertain significance
Last Evaluated: 05/28/2019
Review Status: classified by multiple submitters|classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: FGFR3  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing|curation|literature only
HGVS Name(s): NG_012632.1:g.17851A>C
NC_000004.12:g.1806162A>C
NC_000004.11:g.1807889A>C
NP_000133.1:p.Lys650Gln
NM_000142.4:c.1948A>C
NM_001163213.1:c.1954A>C
NP_001156685.1:p.Lys652Gln
P22607:p.Lys650Gln
LRG_1021t1:c.1948A>C
LRG_1021p1:p.Lys650Gln
LRG_1021:g.17851A>C
LRG_1021p2:p.Lys652Gln
LRG_1021t2:c.1954A>C
NM_022965.3:c.1612A>C
NM_001354809.2:c.1951A>C
NM_001354810.2:c.1951A>C
NR_148971.1:n.2355A>C
NP_075254.1:p.Lys538Gln
NP_001156685.1:p.Lys652Gln
NP_001341738.1:p.Lys651Gln
NP_001341739.1:p.Lys651Gln
null
LRG_1021t2:c.1954A>C
Position
Human AssemblyChrPosition (strand)Source
GRCh3841,806,162 - 1,806,162CLINVAR
GRCh3741,807,889 - 1,807,889CLINVAR
Cytogenetic Map44p16.3CLINVAR
Trait Synonyms: Bladder cancer; Cranial suture synostosis; Craniostenosis; Craniosyostosis; Deformity of the skull; Early fusion of cranial sutures; Keratosis nigricans; Malignant tumor of urinary bladder; Premature closure of cranial sutures; Premature fontanel closure; Premature suture closure; Urinary Bladder Neoplasms
Age Of Onset: childhood
Prevalence: 1-9 / 100 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8600170
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.