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Variant : CV384343 (GRCh37/hg19 15q13.2-13.3(chr15:30386398-32444044)x1) Homo sapiens

Symbol: CV384343
Name: GRCh37/hg19 15q13.2-13.3(chr15:30386398-32444044)x1
Condition: See cases [RCV000448996]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ARHGAP11B   CHRFAM7A   CHRNA7   FAN1   GOLGA8H   KLF13   MIR211   MTMR10   OTUD7A   TRPM1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.9:g.(?_30386398)_(32444044_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh371530,386,398 - 32,444,044CLINVAR
Cytogenetic Map1515q13.2-13.3CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12853696
Created: 2017-04-11
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.