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Variant : CV72814 (GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3) Homo sapiens

Symbol: CV72814
Name: GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3
Condition: See cases [RCV000051967]
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   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 gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_73280574)_(74725240_?)dup
NC_000007.13:g.(?_72665462)_(74139573_?)dup
NC_000007.12:g.(?_72303398)_(73777509_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38773,280,574 - 74,725,240CLINVAR
GRCh37772,665,462 - 74,139,573CLINVAR
Build 36772,303,398 - 73,777,509CLINVAR
Cytogenetic Map77q11.23CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: 1-5 / 10 000



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8618976
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-08-04
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.