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Variant : CV165136 (GRCh38/hg38 7q11.21(chr7:62977012-66848675)) Homo sapiens

Symbol: CV165136
Name: GRCh38/hg38 7q11.21(chr7:62977012-66848675)
Condition: See cases [RCV000143449]
Clinical Significance: likely pathogenic
Last Evaluated: 06/04/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ASL   CICP24   CRCP   ERV3-1   GUSB   KCTD7   LINC00174   LINC01005   LOC100287704   LOC441242   MIR4283-2   MIR6839   RABGEF1   SNORA15B-1   SNORA15B-2   SNORA22   SNORA22C   TPST1   VKORC1L1   ZNF107   ZNF117   ZNF138   ZNF273   ZNF679   ZNF680   ZNF727   ZNF735   ZNF736   ZNF92  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_62977012)_(66848675_?)dup
NC_000007.13:g.(?_62437390)_(66313662_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38762,977,012 - 66,848,675CLINVAR
GRCh37762,437,390 - 66,313,662CLINVAR
Build 36762,074,825 - 65,951,097CLINVAR
Cytogenetic Map77q11.21CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9491047
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-07
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.