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Variant : CV154006 (GRCh38/hg38 7p21.2-21.1(chr7:14904894-16925094)x1) Homo sapiens

Symbol: CV154006
Name: GRCh38/hg38 7p21.2-21.1(chr7:14904894-16925094)x1
Condition: See cases [RCV000133737]
Clinical Significance: pathogenic
Last Evaluated: 06/25/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AGMO   AGR2   AGR3   ANKMY2   BZW2   CRPPA   CRPPA-AS1   DGKB   LINC02587   LRRC72   MEOX2   SOSTDC1   TSPAN13  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_14904894)_(16925094_?)del
NC_000007.13:g.(?_14944519)_(16964718_?)del
NC_000007.12:g.(?_14911044)_(16931243_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38714,904,894 - 16,925,094CLINVAR
GRCh37714,944,519 - 16,964,718CLINVAR
Build 36714,911,044 - 16,931,243CLINVAR
Cytogenetic Map77p21.2-21.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9481322
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.