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Variant : CV73636 (GRCh38/hg38 21q22.13-22.2(chr21:37408770-38645794)x1) Homo sapiens

Symbol: CV73636
Name: GRCh38/hg38 21q22.13-22.2(chr21:37408770-38645794)x1
Condition: See cases [RCV000052837]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: DSCR10   DSCR4   DSCR8   DYRK1A   ERG   KCNJ15   KCNJ6   KCNJ6-AS1   LINC01423   LOC110121448   LOC111099028   LOC112694744   LOC112694745   LOC112694746   LOC112694747   LOC112694748   LOC114827853  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000021.9:g.(?_37408770)_(38645794_?)del
NC_000021.8:g.(?_38781072)_(40017718_?)del
NC_000021.7:g.(?_37702942)_(38939588_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382137,408,770 - 38,645,794CLINVAR
GRCh372138,781,072 - 40,017,718CLINVAR
Build 362137,702,942 - 38,939,588CLINVAR
Cytogenetic Map2121q22.13-22.2CLINVAR
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: 8619808
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-11-17
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.