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Variant : CV383690 (GRCh37/hg19 Xq22.2-22.3(chrX:103046942-104214535)x0) Homo sapiens

Symbol: CV383690
Name: GRCh37/hg19 Xq22.2-22.3(chrX:103046942-104214535)x0
Condition: See cases [RCV000448347]
Clinical Significance: likely pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ESX1   FAM199X   H2BW1   H2BW2   IL1RAPL2   PLP1   RAB9B   SLC25A53   TMSB15B   ZCCHC18  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37X103,046,942 - 104,214,535CLINVAR
Cytogenetic MapXXq22.2-22.3CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 12853055
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-09-10
Status: ACTIVE


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