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Variant : CV72812 (GRCh38/hg38 7q11.22-11.23(chr7:72649515-75361855)x3) Homo sapiens

Symbol: CV72812
Name: GRCh38/hg38 7q11.22-11.23(chr7:72649515-75361855)x3
Condition: See cases [RCV000051965]
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   AC211433.1   BAZ1B   BCL7B   BUD23   CASTOR2   CLDN3   CLDN4   CLIP2   DNAJC30   EIF4H   ELN   FKBP6   FZD9   GTF2I   GTF2IRD1   GTF2IRD2   GTF2IRD2B   LAT2   LIMK1   METTL27   MIR10525   MIR4284   MIR4650-2   MIR590   MLXIPL   NCF1   NSUN5   POM121   RCC1L   RFC2   SPDYE10P   SPDYE11   SPDYE12P   SPDYE13   SPDYE14   SPDYE15   SPDYE7P   SPDYE8   SPDYE9   STX1A   TBL2   TMEM270   TRIM50   TRIM74   TYW1B   VPS37D  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_72649515)_(75361855_?)dup
NC_000007.13:g.(?_72196405)_(74991125_?)dup
NC_000007.12:g.(?_71752436)_(74829061_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38772,649,515 - 75,361,855CLINVAR
GRCh37772,196,405 - 74,991,125CLINVAR
Build 36771,752,436 - 74,829,061CLINVAR
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
 
RGD Object Information
RGD ID: 8618974
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-28
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.