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Variant : CV164339 (GRCh38/hg38 7p21.3-21.2(chr7:11122492-16479303)x1) Homo sapiens

Symbol: CV164339
Name: GRCh38/hg38 7p21.3-21.2(chr7:11122492-16479303)x1
Condition: See cases [RCV000142652]
Clinical Significance: pathogenic
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AGMO   ARL4A   CRPPA   CRPPA-AS1   DGKB   ETV1   LINC02587   MEOX2   PHF14   SCIN   SOSTDC1   THSD7A   TMEM106B   VWDE  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_11122492)_(16479303_?)del
NC_000007.13:g.(?_11162119)_(16518928_?)del
NC_000007.12:g.(?_11128644)_(16485453_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38711,122,492 - 16,479,303CLINVAR
GRCh37711,162,119 - 16,518,928CLINVAR
Build 36711,128,644 - 16,485,453CLINVAR
Cytogenetic Map77p21.3-21.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490250
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.