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Variant : CV74276 (GRCh38/hg38 7p14.1-13(chr7:42388724-43606751)x3) Homo sapiens

Symbol: CV74276
Name: GRCh38/hg38 7p14.1-13(chr7:42388724-43606751)x3
Condition: See cases [RCV000053533]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: C7orf25   HECW1   HECW1-IT1   LINC01448   LUARIS   MIR3943   MRPL32   PSMA2   STK17A  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_42388724)_(43606751_?)dup
NC_000007.13:g.(?_42428323)_(43646350_?)dup
NC_000007.12:g.(?_42394848)_(43612875_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38742,388,724 - 43,606,751CLINVAR
GRCh37742,428,323 - 43,646,350CLINVAR
Build 36742,394,848 - 43,612,875CLINVAR
Cytogenetic Map77p14.1-13CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8620462
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-11-17
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.