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Variant : CV157491 (GRCh38/hg38 2q33.2-33.3(chr2:202631428-204929860)x1) Homo sapiens

Symbol: CV157491
Name: GRCh38/hg38 2q33.2-33.3(chr2:202631428-204929860)x1
Condition: See cases [RCV000136892]
Clinical Significance: pathogenic
Last Evaluated: 10/19/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABI2   CARF   CD28   CTLA4   CYP20A1   FAM117B   ICA1L   ICOS   NBEAL1   PARD3B   RAPH1   WDR12  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_202631428)_(204929860_?)del
NC_000002.11:g.(?_203496151)_(205794583_?)del
NC_000002.10:g.(?_203204396)_(205502828_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382202,631,428 - 204,929,860CLINVAR
GRCh372203,496,151 - 205,794,583CLINVAR
Build 362203,204,396 - 205,502,828CLINVAR
Cytogenetic Map22q33.2-33.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9484453
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-05-19
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.