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Variant : CV163423 (GRCh38/hg38 8p23.1(chr8:8235647-12037723)x1) Homo sapiens

Symbol: CV163423
Name: GRCh38/hg38 8p23.1(chr8:8235647-12037723)x1
Condition: See cases [RCV000141976]
Clinical Significance: pathogenic
Last Evaluated: 08/05/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC022784.1   AC104964.1   AC105001.1   AF131215.3   AF131216.3   BLK   C8orf49   C8orf74   CLDN23   CTSB   DEFB134   DEFB135   DEFB136   ERI1   FAM167A   FAM167A-AS1   FDFT1   GATA4   LINC00208   MFHAS1   MIR124-1   MIR124-1HG   MIR1322   MIR4286   MIR4660   MIR597   MIR598   MSRA   MTMR9   NEIL2   PINX1   PPP1R3B   PRAG1   PRSS51   PRSS55   RP1L1   SLC35G5   SNORA99   SNORD3I   SOX7   TNKS   XKR6  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_8235647)_(12037723_?)del
Human AssemblyChrPosition (strand)Source
GRCh3888,235,647 - 12,037,723CLINVAR
GRCh3788,093,169 - 11,895,232CLINVAR
Build 3688,130,579 - 11,932,641CLINVAR
Cytogenetic Map88p23.1CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9489497
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE


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