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

Variant : CV495012 (GRCh37/hg19 7p11.2(chr7:55848150-56344705)x3) Homo sapiens

Symbol: CV495012
Name: GRCh37/hg19 7p11.2(chr7:55848150-56344705)x3
Condition: See cases [RCV000598887]
Clinical Significance: uncertain significance
Last Evaluated: 07/11/2017
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: CCT6A   CHCHD2   MRPS17   NIPSNAP2   NUPR2   PHKG1   PSPH   SEPTIN14   SUMF2   ZNF713  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37755,848,150 - 56,344,705CLINVAR
Cytogenetic Map77p11.2CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13520747
Created: 2018-04-10
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.