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Variant : CV73147 (GRCh38/hg38 7q11.22-11.23(chr7:68668307-73710276)x1) Homo sapiens

Symbol: CV73147
Name: GRCh38/hg38 7q11.22-11.23(chr7:68668307-73710276)x1
Condition: Global developmental delay [RCV000052321]|See cases [RCV000052321]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AUTS2   BAZ1B   BCL7B   BUD23   CALN1   CT66   DNAJC30   FKBP6   FZD9   GALNT17   MIR3914-1   MIR3914-2   MIR4650-2   MLXIPL   NSUN5   POM121   SPDYE11   STX1A   TBL2   TRIM50   TRIM74   TYW1B   VPS37D  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_68668307)_(73710276_?)del
NC_000007.13:g.(?_68133294)_(72806397_?)del
NC_000007.12:g.(?_67771230)_(72762542_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38768,668,307 - 73,710,276CLINVAR
GRCh37768,133,294 - 72,806,397CLINVAR
Build 36767,771,230 - 72,762,542CLINVAR
Cytogenetic Map77q11.22-11.23CLINVAR
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: 8619314
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
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.