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Variant : CV383067 (GRCh37/hg19 8q21.11-21.13(chr8:75197438-81685526)x1) Homo sapiens

Symbol: CV383067
Name: GRCh37/hg19 8q21.11-21.13(chr8:75197438-81685526)x1
Condition: See cases [RCV000445718]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: CRISPLD1   GDAP1   HEY1   HNF4G   IL7   JPH1   MRPS28   PEX2   PI15   PKIA   STMN2   TPD52   ZBTB10   ZC2HC1A   ZFHX4   ZNF704  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37875,197,438 - 81,685,526CLINVAR
Cytogenetic Map88q21.11-21.13CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 12850452
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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