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Variant : CV248083 (GRCh37/hg19 7q11.22-11.23(chr7:71968212-74133332)x3) Homo sapiens

Symbol: CV248083
Name: GRCh37/hg19 7q11.22-11.23(chr7:71968212-74133332)x3
Condition: See cases [RCV000240527]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ABHD11   ABHD11-AS1   BAZ1B   BCL7B   BUD23   CLDN3   CLDN4   CLIP2   DNAJC30   EIF4H   ELN   FKBP6   FZD9   GTF2I   GTF2IRD1   LAT2   LIMK1   METTL27   MIR590   MLXIPL   NSUN5   POM121   RFC2   STX1A   TBL2   TMEM270   TRIM50   TRIM74   TYW1B   VPS37D  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37771,968,212 - 74,133,332CLINVAR
Cytogenetic Map77q11.22-11.23CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 11541911
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE


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