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Variant : CV74842 (GRCh38/hg38 7q11.23(chr7:74176025-75361855)x1) Homo sapiens

Symbol: CV74842
Name: GRCh38/hg38 7q11.23(chr7:74176025-75361855)x1
Condition: Global developmental delay [RCV000054121]|See cases [RCV000054121]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CASTOR2   CLIP2   EIF4H   GTF2I   GTF2IRD1   GTF2IRD2   GTF2IRD2B   LAT2   MIR10525   MIR590   NCF1   RCC1L   RFC2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_74176025)_(75361855_?)del
NC_000007.13:g.(?_73992744)_(74991125_?)del
NC_000007.12:g.(?_73228291)_(74829061_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38774,176,025 - 75,361,855CLINVAR
GRCh37773,992,744 - 74,991,125CLINVAR
Build 36773,228,291 - 74,829,061CLINVAR
Cytogenetic Map77q11.23CLINVAR
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: 8621034
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-07
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.