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Variant : CV163036 (GRCh38/hg38 Xp22.2-22.13(chrX:15789793-18902428)x1) Homo sapiens

Symbol: CV163036
Name: GRCh38/hg38 Xp22.2-22.13(chrX:15789793-18902428)x1
Condition: See cases [RCV000141732]
Clinical Significance: pathogenic
Last Evaluated: 03/24/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AP1S2   BEND2   CDKL5   CTPS2   GRPR   LINC01456   MAGEB17   MIR4768   MIR548AM   NHS   NHS-AS1   PHKA2   PHKA2-AS1   PPEF1   PPEF1-AS1   RAI2   RBBP7   REPS2   RS1   S100G   SCML1   SCML2   SYAP1   TRV-TAC1-2   TXLNG   ZRSR2  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_15789793)_(18902428_?)del
Human AssemblyChrPosition (strand)Source
GRCh38X15,789,793 - 18,902,428CLINVAR
GRCh37X15,807,916 - 18,920,546CLINVAR
Build 36X15,717,837 - 18,830,467CLINVAR
Cytogenetic MapXXp22.2-22.13CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9489255
Created: 2014-09-09
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.