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Variant : CV602240 (GRCh37/hg19 8q11.21-12.1(chr8:49822483-58822602)x1) Homo sapiens

Symbol: CV602240
Name: GRCh37/hg19 8q11.21-12.1(chr8:49822483-58822602)x1
Condition: not provided [RCV000747540]
Clinical Significance: pathogenic
Last Evaluated: 10/17/2014
Review Status: no assertion criteria provided
Related Genes: ALKAL1   ATP6V1H   BPNT2   CHCHD7   LYN   LYPLA1   MOS   MRPL15   NPBWR1   OPRK1   PCMTD1   PENK   PLAG1   PPDPFL   PXDNL   RB1CC1   RGS20   RP1   RPS20   SDR16C5   SNAI2   SNTG1   SOX17   ST18   TCEA1   TGS1   TMEM68   XKR4  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37849,822,483 - 58,822,602CLINVAR
Cytogenetic Map88q11.21-12.1CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 14362885
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


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