Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV162809 (GRCh38/hg38 8p23.1(chr8:8764178-11063564)x3) Homo sapiens

Symbol: CV162809
Name: GRCh38/hg38 8p23.1(chr8:8764178-11063564)x3
Condition: See cases [RCV000141557]
Clinical Significance: pathogenic
Last Evaluated: 02/06/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC022784.1   AC105001.1   AF131215.3   C8orf74   ERI1   LINCR-0001   MFHAS1   MIR124-1   MIR124-1HG   MIR1322   MIR4286   MIR4660   MIR597   MIR598   MSRA   PINX1   PPP1R3B   PRSS51   PRSS55   RP1L1   SNORD3I   SOX7   TNKS   XKR6  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_8764178)_(11063564_?)dup
NC_000008.10:g.(?_8621688)_(10921074_?)dup
NC_000008.9:g.(?_8659098)_(10958484_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3888,764,178 - 11,063,564CLINVAR
GRCh3788,621,688 - 10,921,074CLINVAR
Build 3688,659,098 - 10,958,484CLINVAR
Cytogenetic Map88p23.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9489082
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-09-08
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.