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Variant : CV163072 (GRCh38/hg38 7q21.2-21.3(chr7:92759144-97568646)x1) Homo sapiens

Symbol: CV163072
Name: GRCh38/hg38 7q21.2-21.3(chr7:92759144-97568646)x1
Condition: See cases [RCV000141756]
Clinical Significance: pathogenic
Last Evaluated: 05/07/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ASB4   BET1   BET1-AS1   CALCR   CASD1   CDK6   CDK6-AS1   COL1A2   COL1A2-AS1   DLX5   DLX6   DLX6-AS1   DYNC1I1   GNG11   GNGT1   HEPACAM2   MIR4652   MIR489   MIR591   MIR653   PDK4   PEG10   PON1   PON2   PON3   PPP1R9A   SAMD9   SAMD9L   SDHAF3   SEM1   SGCE   SLC25A13   TFPI2   VPS50  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_92759144)_(97568646_?)del
Human AssemblyChrPosition (strand)Source
GRCh38792,759,144 - 97,568,646CLINVAR
GRCh37792,388,458 - 97,197,958CLINVAR
Build 36792,226,394 - 97,035,894CLINVAR
Cytogenetic Map77q21.2-21.3CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9489279
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE


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