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Variant : CV491173 (NM_014780.4(CUL7):c.139C>T (p.Arg47Cys)) Homo sapiens

Symbol: CV491173
Name: NM_014780.4(CUL7):c.139C>T (p.Arg47Cys)
Condition: not specified [RCV000594886]
Clinical Significance: uncertain significance
Last Evaluated: 01/23/2017
Review Status: criteria provided, single submitter
Related Genes: CUL7  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_016205.1:g.6296C>T
NM_014780.4:c.139C>T
NP_055595.2:p.Arg47Cys
NC_000006.11:g.43020388G>A
NC_000006.12:g.43052650G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38643,052,650 - 43,052,650CLINVAR
GRCh37643,020,388 - 43,020,388CLINVAR
Cytogenetic Map66p21.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13515924
Created: 2018-04-10
Species: Homo sapiens
Last Modified: 2019-08-06
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.