Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV189134 (NM_014780.4(CUL7):c.263delT (p.Val88Alafs)) Homo sapiens

Symbol: CV189134
Name: NM_014780.4(CUL7):c.263delT (p.Val88Alafs)
Condition: not provided [RCV000171524]
Clinical Significance: likely pathogenic
Last Evaluated:
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CUL7  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: research
HGVS Name(s): NC_000006.12:g.43052526delA
NC_000006.11:g.43020264delA
NP_055595.2:p.Val88Alafs
Position
Human AssemblyChrPosition (strand)Source
GRCh38643,052,526 - 43,052,526CLINVAR
GRCh37643,020,264 - 43,020,264CLINVAR
Cytogenetic Map66p21.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10045330
Created: 2015-06-09
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE



NHLBI Logo

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