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Variant : CV170930 (GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1) Homo sapiens

Symbol: CV170930
Name: GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1
Condition: See cases [RCV000148286]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC022784.1   AC105001.1   AF131215.3   AF131216.3   BLK   C8orf49   C8orf74   CLDN23   CRE3   CTSB   DEFB130B   DEFB134   DEFB135   DEFB136   ERI1   FAM167A   FAM167A-AS1   FAM66D   FAM85B   FAM86B1   FDFT1   GATA4   LINC00208   LINCR-0001   LOC101929229   LOC110120689   LOC110121280   LOC110121281   LOC111365225   LOC113788244   LOC113788245   LOC113788246   LOC113788294   LOC116186920   LOC116186921   MFHAS1   MIR124-1   MIR124-1HG   MIR1322   MIR4286   MIR4660   MIR597   MIR598   MSRA   MTMR9   NEIL2   PINX1   PPP1R3B   PRAG1   PRSS51   PRSS55   RP1L1   SLC35G5   SNORA99   SNORD3I   SOX7   TNKS   USP17L2   USP17L7   XKR6   ZNF705D  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_8222339)_(12182465_?)del
Human AssemblyChrPosition (strand)Source
GRCh3888,222,339 - 12,182,465CLINVAR
GRCh3788,079,861 - 12,039,974CLINVAR
Build 3688,117,271 - 12,077,383CLINVAR
Cytogenetic Map88p23.1CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9684835
Created: 2014-12-09
Species: Homo sapiens
Last Modified: 2020-10-20
Status: ACTIVE


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