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Variant : CV158648 (GRCh38/hg38 10q26.3(chr10:129427520-133622588)x1) Homo sapiens

Symbol: CV158648
Name: GRCh38/hg38 10q26.3(chr10:129427520-133622588)x1
Condition: See cases [RCV000137959]
Clinical Significance: pathogenic
Last Evaluated: 03/09/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADAM8   ADGRA1   ADGRA1-AS1   BNIP3   C10orf143   CALY   CFAP46   CYP2E1   DPYSL4   EBF3   ECHS1   FUOM   GLRX3   INPP5A   JAKMIP3   KNDC1   LINC01164   LINC01165   LINC01166   LINC01167   LINC01168   LINC02870   LRRC27   MGMT   MIR202   MIR202HG   MIR378C   MIR3944   MIR4297   MTG1   NKX6-2   PAOX   PPP2R2D   PRAP1   PWWP2B   SPRN   STK32C   SYCE1   TCERG1L   TCERG1L-AS1   TUBGCP2   UTF1   VENTX   ZNF511  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_129427520)_(133622588_?)del
Human AssemblyChrPosition (strand)Source
GRCh3810129,427,520 - 133,622,588CLINVAR
GRCh3710131,225,784 - 135,436,092CLINVAR
Build 3610131,115,774 - 135,286,082CLINVAR
Cytogenetic Map1010q26.3CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9485508
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-04
Status: ACTIVE


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