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Variant : CV248204 (GRCh37/hg19 22q13.2(chr22:42207144-42776457)x1) Homo sapiens

Symbol: CV248204
Name: GRCh37/hg19 22q13.2(chr22:42207144-42776457)x1
Condition: See cases [RCV000240146]
Clinical Significance: uncertain significance
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: CCDC134   CENPM   CYP2D6   MIR33A   NAGA   NDUFA6   NFAM1   PHETA2   SEPTIN3   SHISA8   SMDT1   SREBF2   TCF20   TNFRSF13C   WBP2NL  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372242,207,144 - 42,776,457CLINVAR
Cytogenetic Map2222q13.2CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 11541695
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE


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