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Variant : CV804684 (GRCh37/hg19 22q13.1(chr22:38431917-39392250)x1) Homo sapiens

Symbol: CV804684
Name: GRCh37/hg19 22q13.1(chr22:38431917-39392250)x1
Condition: See cases [RCV001007404]
Clinical Significance: likely pathogenic
Last Evaluated: 01/17/2018
Review Status: criteria provided, single submitter
Related Genes: APOBEC3A   APOBEC3B   BAIAP2L2   CBX6   CBY1   CSNK1E   DDX17   DMC1   DNAL4   FAM227A   GTPBP1   JOSD1   KCNJ4   KDELR3   MAFF   NPTXR   PICK1   PLA2G6   SLC16A8   SUN2   TMEM184B   TOMM22  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372238,431,917 - 39,392,250CLINVAR
Cytogenetic Map2222q13.1CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 25317251
Created: 2020-04-07
Species: Homo sapiens
Last Modified: 2020-09-08
Status: ACTIVE


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