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Variant : CV164967 (GRCh38/hg38 8p23.1(chr8:8235544-12088347)x3) Homo sapiens

Symbol: CV164967
Name: GRCh38/hg38 8p23.1(chr8:8235544-12088347)x3
Condition: See cases [RCV000143280]
Clinical Significance: pathogenic
Last Evaluated: 03/11/2013
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   DEFB130B   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 gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_8235544)_(12088347_?)dup
NC_000008.10:g.(?_8093066)_(11945856_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3888,235,544 - 12,088,347CLINVAR
GRCh3788,093,066 - 11,945,856CLINVAR
Build 3688,130,476 - 11,983,265CLINVAR
Cytogenetic Map88p23.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9490878
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-06-30
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.