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Variant : CV192459 (NM_014780.4(CUL7):c.79C>T (p.Arg27Cys)) Homo sapiens

Symbol: CV192459
Name: NM_014780.4(CUL7):c.79C>T (p.Arg27Cys)
Condition: not specified [RCV000175861]
Clinical Significance: uncertain significance
Last Evaluated: 01/29/2015
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): NM_014780.4:c.79C>T
NG_016205.1:g.6236C>T
NC_000006.12:g.43052710G>A
NC_000006.11:g.43020448G>A
NP_055595.2:p.Arg27Cys
Position
Human AssemblyChrPosition (strand)Source
GRCh38643,052,710 - 43,052,710CLINVAR
GRCh37643,020,448 - 43,020,448CLINVAR
Cytogenetic Map66p21.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10050798
Created: 2015-07-14
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.