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Variant : CV164202 (GRCh38/hg38 8p23.1(chr8:8273108-9687019)x1) Homo sapiens

Symbol: CV164202
Name: GRCh38/hg38 8p23.1(chr8:8273108-9687019)x1
Condition: See cases [RCV000142515]
Clinical Significance: pathogenic
Last Evaluated: 11/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC022784.1   CLDN23   ERI1   MFHAS1   MIR4660   PPP1R3B   PRAG1   SNORD3I   TNKS  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_8273108)_(9687019_?)del
NC_000008.10:g.(?_8130630)_(9544529_?)del
NC_000008.9:g.(?_8168040)_(9581939_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3888,273,108 - 9,687,019CLINVAR
GRCh3788,130,630 - 9,544,529CLINVAR
Build 3688,168,040 - 9,581,939CLINVAR
Cytogenetic Map88p23.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9490113
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-07
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.