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Variant : CV158549 (GRCh38/hg38 8p23.1(chr8:8222339-12050329)x3) Homo sapiens

Symbol: CV158549
Name: GRCh38/hg38 8p23.1(chr8:8222339-12050329)x3
Condition: See cases [RCV000137864]
Clinical Significance: likely pathogenic
Last Evaluated: 10/21/2011
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   FAM85B   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 gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_8222339)_(12050329_?)dup
NC_000008.10:g.(?_8079861)_(11907838_?)dup
NC_000008.9:g.(?_8117271)_(11945247_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3888,222,339 - 12,050,329CLINVAR
GRCh3788,079,861 - 11,907,838CLINVAR
Build 3688,117,271 - 11,945,247CLINVAR
Cytogenetic Map88p23.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485415
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE



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