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Variant : CV72139 (GRCh38/hg38 2q12.3-13(chr2:108579001-109736559)x1) Homo sapiens

Symbol: CV72139
Name: GRCh38/hg38 2q12.3-13(chr2:108579001-109736559)x1
Condition: See cases [RCV000051261]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CCDC138   EDAR   LIMS1   LIMS1-AS1   LOC112695112   LOC112695113   LOC112695114   LOC112695115   MIR4265   MIR4266   RANBP2   SEPTIN10   SH3RF3   SH3RF3-AS1   SOWAHC  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_108579001)_(109736559_?)del
Human AssemblyChrPosition (strand)Source
GRCh382108,579,001 - 109,736,559CLINVAR
GRCh372109,195,457 - 110,494,136CLINVAR
Build 362108,561,889 - 109,851,425CLINVAR
Cytogenetic Map22q12.3-13CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8618295
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-11-17
Status: ACTIVE


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