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Variant : CV73656 (GRCh38/hg38 22q13.31(chr22:43841416-44192863)x3) Homo sapiens

Symbol: CV73656
Name: GRCh38/hg38 22q13.31(chr22:43841416-44192863)x3
Condition: See cases [RCV000052857]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: LOC114004363   PARVB   PARVG   PNPLA3   PNPLA5   SAMM50   SULT4A1   TRU-TCA2-1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_43841416)_(44192863_?)dup
NC_000022.10:g.(?_44237296)_(44588743_?)dup
NC_000022.9:g.(?_42568629)_(42920076_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382243,841,416 - 44,192,863CLINVAR
GRCh372244,237,296 - 44,588,743CLINVAR
Build 362242,568,629 - 42,920,076CLINVAR
Cytogenetic Map2222q13.31CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619828
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-09-22
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.