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Variant : CV74192 (GRCh38/hg38 7p12.1-11.2(chr7:53450330-56107195)x3) Homo sapiens

Symbol: CV74192
Name: GRCh38/hg38 7p12.1-11.2(chr7:53450330-56107195)x3
Condition: See cases [RCV000053440]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CCT6A   CHCHD2   EGFR   EGFR-AS1   ELDR   FRA7A   LANCL2   LINC01445   LINC01446   MRPS17   NIPSNAP2   PHKG1   PSPH   SEC61G   SEC61G-DT   SEPTIN14   SNORA15   SNORA22B   SUMF2   VOPP1   VSTM2A   VSTM2A-OT1   ZNF713  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_53450330)_(56107195_?)dup
NC_000007.13:g.(?_53518023)_(56174888_?)dup
NC_000007.12:g.(?_53485517)_(56142382_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38753,450,330 - 56,107,195CLINVAR
GRCh37753,518,023 - 56,174,888CLINVAR
Build 36753,485,517 - 56,142,382CLINVAR
Cytogenetic Map77p12.1-11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8620377
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-05-19
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.