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Variant : CV247372 (GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3) Homo sapiens

Symbol: CV247372
Name: GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3
Condition: See cases [RCV000239428]
Clinical Significance: pathogenic
Last Evaluated: 04/22/2016
Review Status: criteria provided, single submitter
Related Genes: ALKAL1   ASPH   ATP6V1H   BPNT2   CA8   CHCHD7   CHD7   CLVS1   CYP7A1   FAM110B   GGH   LINC01602   LYN   LYPLA1   MOS   MRPL15   NKAIN3   NPBWR1   NSMAF   OPRK1   PENK   PLAG1   RAB2A   RB1CC1   RGS20   RP1   RPS20   SDCBP   SDR16C5   SOX17   TCEA1   TGS1   TMEM68   TOX   TTPA   UBXN2B   XKR4   YTHDF3  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37853,436,131 - 65,195,953CLINVAR
Cytogenetic Map88q11.23-12.3CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 11531154
Created: 2016-09-01
Species: Homo sapiens
Last Modified: 2020-03-31
Status: ACTIVE


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