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Variant : CV613920 (GRCh37/hg19 20p12.2(chr20:10124855-11479105)) Homo sapiens

Symbol: CV613920
Name: GRCh37/hg19 20p12.2(chr20:10124855-11479105)
Condition: Alagille syndrome 1 [RCV000767624]
Clinical Significance: pathogenic
Last Evaluated: 11/01/2018
Review Status: criteria provided, single submitter
Related Genes: JAG1   MKKS   SLX4IP   SNAP25  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372010,124,855 - 11,479,105CLINVAR
Cytogenetic Map2020p12.2CLINVAR
Trait Synonyms: JAG1-Related Alagille Syndrome

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 14399643
Created: 2019-05-07
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


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