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

Variant : CV381902 (GRCh37/hg19 7p11.2(chr7:54972516-56172165)x1) Homo sapiens

Symbol: CV381902
Name: GRCh37/hg19 7p11.2(chr7:54972516-56172165)x1
Condition: See cases [RCV000445658]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: CCT6A   CHCHD2   EGFR   LANCL2   MRPS17   NIPSNAP2   PHKG1   PSPH   SEPTIN14   SUMF2   VOPP1   ZNF713  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37754,972,516 - 56,172,165CLINVAR
Cytogenetic Map77p11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12850392
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-05-12
Status: ACTIVE



NHLBI Logo

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