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Variant : CV227986 (GRCh37/hg19 2q13(chr2:111186302-113273657)) Homo sapiens

Symbol: CV227986
Name: GRCh37/hg19 2q13(chr2:111186302-113273657)
Condition: Abnormality of esophagus morphology [RCV000416806]
Clinical Significance: likely pathogenic
Last Evaluated: 12/15/2015
Review Status: criteria provided, single submitter
Related Genes: ACOXL   ANAPC1   BCL2L11   BUB1   FBLN7   LIMS4   MERTK   RGPD6   RGPD8   TMEM87B   TTL   ZC3H6   ZC3H8  
Variant Type: copy number gain (SO:0001742)
Evidence: research
Human AssemblyChrPosition (strand)Source
GRCh372111,186,302 - 113,273,657CLINVAR
Cytogenetic Map22q13CLINVAR
Trait Synonyms: Anomaly of the esophagus

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 12791416
Created: 2017-03-07
Species: Homo sapiens
Last Modified: 2020-06-23
Status: ACTIVE


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