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Variant : CV73193 (GRCh38/hg38 16p13.3(chr16:239680-589745)x3) Homo sapiens

Symbol: CV73193
Name: GRCh38/hg38 16p13.3(chr16:239680-589745)x3
Condition: Global developmental delay [RCV000052371]|See cases [RCV000052371]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ARHGDIG   AXIN1   CAPN15   DECR2   FAM234A   LINC00235   MIR3176   MIR5587   MRPL28   NHLRC4   NME4   PDIA2   PGAP6   PIGQ   PRR35   RAB11FIP3   RAB40C   RGS11  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_239680)_(589745_?)dup
Human AssemblyChrPosition (strand)Source
GRCh3816239,680 - 589,745CLINVAR
GRCh3716289,679 - 639,745CLINVAR
Build 3616229,680 - 579,746CLINVAR
Cytogenetic Map1616p13.3CLINVAR
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: 8619361
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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