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Variant : CV158945 (GRCh38/hg38 15q13.2-13.3(chr15:30629714-32621998)x1) Homo sapiens

Symbol: CV158945
Name: GRCh38/hg38 15q13.2-13.3(chr15:30629714-32621998)x1
Condition: See cases [RCV000138247]
Clinical Significance: pathogenic
Last Evaluated: 03/27/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ARHGAP11A   ARHGAP11B   CHRNA7   FAN1   GOLGA8K   GOLGA8N   GOLGA8O   KLF13   LINC02256   LINC02352   MIR211   MTMR10   OTUD7A   TRPM1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_30629714)_(32621998_?)del
NC_000015.9:g.(?_30921917)_(32914199_?)del
NC_000015.8:g.(?_28709209)_(30701491_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381530,629,714 - 32,621,998CLINVAR
GRCh371530,921,917 - 32,914,199CLINVAR
Build 361528,709,209 - 30,701,491CLINVAR
Cytogenetic Map1515q13.2-13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9485796
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-08-06
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.