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Variant : CV156296 (GRCh38/hg38 7q11.22-11.23(chr7:71461127-73614730)x1) Homo sapiens

Symbol: CV156296
Name: GRCh38/hg38 7q11.22-11.23(chr7:71461127-73614730)x1
Condition: See cases [RCV000135816]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: BAZ1B   BCL7B   CALN1   FKBP6   FZD9   GALNT17   MIR4650-2   MLXIPL   NSUN5   POM121   SPDYE11   TBL2   TRIM50   TRIM74   TYW1B  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_71461127)_(73614730_?)del
NC_000007.13:g.(?_70926112)_(72806397_?)del
NC_000007.12:g.(?_70564048)_(72666996_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38771,461,127 - 73,614,730CLINVAR
GRCh37770,926,112 - 72,806,397 (+)CLINVAR
Build 36770,564,048 - 72,666,996CLINVAR
Cytogenetic Map77q11.22-11.23CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9483382
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-21
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.