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Variant : CV554583 (GRCh37/hg19 7q11.23(chr7:72576872-74175429)x3) Homo sapiens

Symbol: CV554583
Name: GRCh37/hg19 7q11.23(chr7:72576872-74175429)x3
Condition: not provided [RCV000682888]
Clinical Significance: pathogenic
Last Evaluated: 03/27/2018
Review Status: 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   MIR590   MLXIPL   NSUN5   RFC2   STX1A   TBL2   TMEM270   TRIM50   VPS37D  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37772,576,872 - 74,175,429CLINVAR
Cytogenetic Map77q11.23CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13795789
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-01-21
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.