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Variant : CV73713 (GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1) Homo sapiens

Symbol: CV73713
Name: GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1
Condition: Global developmental delay [RCV000052916]|See cases [RCV000052916]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AOPEP   ASPN   BARX1   BARX1-DT   BICD2   C9orf129   CARD19   CDC14B   CENPP   ECM2   ERCC6L2   FAM120A   FAM120AOS   FANCC   FBP1   FBP2   FGD3   HABP4   HSD17B3   HSD17B3-AS1   IARS1   IPPK   LINC00092   LINC00475   LINC00476   LINC02603   MFSD14B   MFSD14C   MIR2278   MIR23B   MIR24-1   MIR27B   MIR3074   MIR3651   MIR3910-1   MIR3910-2   MIR4291   MIR4670   MIR548AU   MIR6081   MIRLET7A1   MIRLET7D   MIRLET7F1   NINJ1   NOL8   NUTM2F   NUTM2G   OGN   OMD   PCAT7   PHF2   PRSS47   PRXL2C   PTCH1   PTPDC1   ROR2   SLC35D2   SNORA84   SPTLC1   SUSD3   WNK2   ZNF169   ZNF367   ZNF484   ZNF510   ZNF782  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_91596533)_(97018746_?)del
Human AssemblyChrPosition (strand)Source
GRCh38991,596,533 - 97,018,746CLINVAR
GRCh37994,358,815 - 99,781,028CLINVAR
Build 36993,398,636 - 98,820,849CLINVAR
Cytogenetic Map99q22.31-22.33CLINVAR
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: 8619886
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-21
Status: ACTIVE


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