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Variant : CV74876 (GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1) Homo sapiens

Symbol: CV74876
Name: GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1
Condition: Global developmental delay [RCV000054155]|See cases [RCV000054155]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACHE   ACTL6B   AGFG2   ALKBH4   AP1S1   C7orf61   CLDN15   COL26A1   CUX1   EMSLR   EPHB4   EPO   FBXO24   FIS1   GIGYF1   GNB2   IFT22   LINC01007   LNCPRESS1   LRCH4   LRWD1   MEPCE   MIR4285   MIR4467   MIR4653   MIR5090   MIR548O   MIR6875   MOGAT3   MOSPD3   MUC12   MUC12-AS1   MUC17   MUC3A   MYL10   NAT16   NYAP1   ORAI2   PCOLCE   PCOLCE-AS1   PLOD3   POLR2J   POP7   PPP1R35   PPP1R35-AS1   PRKRIP1   RASA4B   SAP25   SERPINE1   SH2B2   SLC12A9   SLC12A9-AS1   SPDYE6   SRRT   TFR2   TRIM56   TRIP6   TSC22D4   UFSP1   VGF   ZAN   ZCWPW1   ZNHIT1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_100419914)_(102482826_?)del
Human AssemblyChrPosition (strand)Source
GRCh387100,419,914 - 102,482,826CLINVAR
GRCh377100,017,537 - 102,123,273CLINVAR
Build 36799,855,473 - 101,910,278CLINVAR
Cytogenetic Map77q22.1CLINVAR
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
CRRD Object Information
CRRD ID: 8621068
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.