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Variant : CV157435 (GRCh38/hg38 7p21.1-15.3(chr7:19145712-22193713)x1) Homo sapiens

Symbol: CV157435
Name: GRCh38/hg38 7p21.1-15.3(chr7:19145712-22193713)x1
Condition: See cases [RCV000136842]
Clinical Significance: pathogenic
Last Evaluated: 10/14/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCB5   CDCA7L   DNAH11   ITGB8   LINC01162   MACC1   MACC1-AS1   MIR1183   MIR3146   RAPGEF5   SP4   SP8   TMEM196   TWISTNB  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_19145712)_(22193713_?)del
NC_000007.13:g.(?_19185335)_(22233331_?)del
NC_000007.12:g.(?_19151860)_(22199856_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38719,145,712 - 22,193,713CLINVAR
GRCh37719,185,335 - 22,233,331CLINVAR
Build 36719,151,860 - 22,199,856CLINVAR
Cytogenetic Map77p21.1-15.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9484403
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-11
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.