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Variant : CV72832 (GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3) Homo sapiens

Symbol: CV72832
Name: GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3
Condition: Corpus callosum agenesis [RCV000051986]|Chiari malformation type II [RCV000051987]|Global developmental delay [RCV000051988]|See cases [RCV000051986]
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 gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_73280574)_(74725240_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38773,280,574 - 74,725,240CLINVAR
GRCh37772,679,397 - 74,139,573CLINVAR
Build 36772,317,333 - 73,777,509CLINVAR
Cytogenetic Map77q11.23CLINVAR
Age Of Onset: childhood
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: 8618994
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.