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Variant : CV164869 (GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1) Homo sapiens

Symbol: CV164869
Name: GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1
Condition: See cases [RCV000143182]
Clinical Significance: pathogenic
Last Evaluated: 01/09/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ASPH   ATP6V1H   BPNT2   CA8   CERNA3   CHCHD7   CHD7   CLVS1   CYP7A1   FAM110B   LINC00588   LINC00968   LINC01301   LINC01602   LINC01606   LINC02842   LYN   LYPLA1   MIR4470   MOS   MRPL15   NSMAF   PENK   PLAG1   RAB2A   RGS20   RNU105C   RP1   RPS20   SDCBP   SDR16C5   SNORA1B   SNORD54   SOX17   TCEA1   TGS1   TMEM68   TOX   UBXN2B   XKR4  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_53325389)_(61863018_?)del
Human AssemblyChrPosition (strand)Source
GRCh38853,325,389 - 61,863,018CLINVAR
GRCh37854,237,949 - 62,775,577CLINVAR
Build 36854,400,502 - 62,938,131CLINVAR
Cytogenetic Map88q11.23-12.3CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9490780
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-17
Status: ACTIVE


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