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Variant : CV163540 (GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1) Homo sapiens

Symbol: CV163540
Name: GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1
Condition: See cases [RCV000142053]
Clinical Significance: pathogenic
Last Evaluated: 09/18/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACE2   AKAP17A   AMELX   ANOS1   AP1S2   ARHGAP6   ARSD   ARSD-AS1   ARSF   ARSH   ARSL   ASB11   ASB9   ASMT   ASMTL   ASMTL-AS1   ATXN3L   BMX   CA5B   CD99   CLCN4   CLDN34   CLTRN   CRLF2   CSF2RA   CTPS2   DHRSX   EGFL6   FAM9A   FAM9B   FAM9C   FANCB   FRMPD4   GEMIN8   GLRA2   GPM6B   GPR143   GRPR   GTPBP6   GYG2   HCCS   IL3RA   INE2   LINC00102   LINC00106   LINC00685   LINC01203   LINC01546   LINC02154   MAGEB17   MID1   MIR3690   MIR4767   MIR4770   MIR548AM   MIR548AX   MIR6086   MIR6089   MIR651   MOSPD2   MSL3   MXRA5   NLGN4X   OFD1   P2RY8   PIGA   PIR   PLCXD1   PNPLA4   PPP2R3B   PRKX   PRKX-AS1   PRPS2   PUDP   RAB9A   RBBP7   REPS2   S100G   SHOX   SHROOM2   SLC25A6   SNORA48B   STS   SYAP1   TBL1X   TCEANC   TLR7   TLR8   TLR8-AS1   TMSB4X   TRAPPC2   TRI-GAT1-1   TRI-GAT1-2   TRI-GAT1-3   TXLNG   VCX   VCX2   VCX3A   VCX3B   VEGFD   WWC3   XG   ZBED1   ZRSR2  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_251879)_(16967290_?)del
Human AssemblyChrPosition (strand)Source
GRCh38X251,879 - 16,967,290CLINVAR
GRCh37X168,546 - 16,985,413CLINVAR
Build 36X108,546 - 16,895,334CLINVAR
Cytogenetic MapXXp22.33-22.2CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9489573
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-10-08
Status: ACTIVE


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