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Variant : CV247792 (GRCh37/hg19 8q12.1(chr8:56405320-57358911)x1) Homo sapiens

Symbol: CV247792
Name: GRCh37/hg19 8q12.1(chr8:56405320-57358911)x1
Condition: See cases [RCV000240504]
Clinical Significance: likely pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: CHCHD7   LYN   MOS   PENK   PLAG1   RPS20   SDR16C5   TGS1   TMEM68   XKR4  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37856,405,320 - 57,358,911CLINVAR
Cytogenetic Map88q12.1CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 11541892
Created: 2016-10-11
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.