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Variant : CV158436 (GRCh38/hg38 Xp22.31-22.2(chrX:9239101-16721153)x1) Homo sapiens

Symbol: CV158436
Name: GRCh38/hg38 Xp22.31-22.2(chrX:9239101-16721153)x1
Condition: See cases [RCV000137753]
Clinical Significance: uncertain significance
Last Evaluated: 10/07/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACE2   AMELX   AP1S2   ARHGAP6   ASB11   ASB9   ATXN3L   BMX   CA5B   CLCN4   CLDN34   CLTRN   CTPS2   EGFL6   FAM9C   FANCB   FRMPD4   GEMIN8   GLRA2   GPM6B   GPR143   GRPR   HCCS   INE2   LINC01203   LINC02154   MAGEB17   MID1   MIR548AM   MIR548AX   MIR6086   MOSPD2   MSL3   OFD1   PIGA   PIR   PRPS2   RAB9A   S100G   SHROOM2   SYAP1   TBL1X   TCEANC   TLR7   TLR8   TLR8-AS1   TMSB4X   TRAPPC2   VEGFD   WWC3   ZRSR2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_9239101)_(16721153_?)del
NC_000023.10:g.(?_9207141)_(16739276_?)del
NC_000023.9:g.(?_9167141)_(16649197_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X9,239,101 - 16,721,153CLINVAR
GRCh37X9,207,141 - 16,739,276CLINVAR
Build 36X9,167,141 - 16,649,197CLINVAR
Cytogenetic MapXXp22.31-22.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485305
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-10-01
Status: ACTIVE



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