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Variant : CV162711 (GRCh38/hg38 8p23.1(chr8:9456230-11013618)x1) Homo sapiens

Symbol: CV162711
Name: GRCh38/hg38 8p23.1(chr8:9456230-11013618)x1
Condition: See cases [RCV000141459]
Clinical Significance: pathogenic
Last Evaluated: 02/04/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC104964.1   AC105001.1   C8orf74   MIR124-1   MIR124-1HG   MIR1322   MIR4286   MIR597   MSRA   PINX1   PRSS51   PRSS55   RP1L1   SOX7   TNKS   XKR6  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_9456230)_(11013618_?)del
NC_000008.10:g.(?_9313740)_(10871128_?)del
NC_000008.9:g.(?_9351150)_(10908538_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3889,456,230 - 11,013,618CLINVAR
GRCh3789,313,740 - 10,871,128CLINVAR
Build 3689,351,150 - 10,908,538CLINVAR
Cytogenetic Map88p23.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9488984
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-08-04
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.