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Variant : CV73914 (GRCh38/hg38 7q11.23(chr7:73286412-74707848)x1) Homo sapiens

Symbol: CV73914
Name: GRCh38/hg38 7q11.23(chr7:73286412-74707848)x1
Condition: Global developmental delay [RCV000053150]|See cases [RCV000053150]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABHD11   ABHD11-AS1   BAZ1B   BCL7B   BUD23   CLDN3   CLDN4   CLIP2   DNAJC30   EIF4H   ELN   FKBP6   FZD9   GTF2I   GTF2IRD1   LAT2   LIMK1   METTL27   MIR10525   MIR4284   MIR590   MLXIPL   NSUN5   RFC2   STX1A   TBL2   TMEM270   TRIM50   VPS37D  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_73286412)_(74707848_?)del
NC_000007.13:g.(?_72700414)_(74122179_?)del
NC_000007.12:g.(?_72338350)_(73760115_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38773,286,412 - 74,707,848CLINVAR
GRCh37772,700,414 - 74,122,179CLINVAR
Build 36772,338,350 - 73,760,115CLINVAR
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: 8620092
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
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.