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Variant : CV170656 (GRCh38/hg38 2q22.3(chr2:143900149-144668138)x3) Homo sapiens

Symbol: CV170656
Name: GRCh38/hg38 2q22.3(chr2:143900149-144668138)x3
Condition: See cases [RCV000148074]
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: GTDC1   LINC01412   TEX41   ZEB2   ZEB2-AS1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_143900149)_(144668138_?)dup
NC_000002.11:g.(?_144657717)_(145425705_?)dup
NC_000002.10:g.(?_144374187)_(145142175_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382143,900,149 - 144,668,138CLINVAR
GRCh372144,657,717 - 145,425,705CLINVAR
Build 362144,374,187 - 145,142,175CLINVAR
Cytogenetic Map22q22.3CLINVAR




Additional Information

 
CRRD Object Information
CRRD ID: 9684623
Created: 2014-12-09
Species: Homo sapiens
Last Modified: 2017-10-31
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.