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Variant : CV158760 (GRCh38/hg38 Xp22.2-21.2(chrX:12254555-30410580)x1) Homo sapiens

Symbol: CV158760
Name: GRCh38/hg38 Xp22.2-21.2(chrX:12254555-30410580)x1
Condition: See cases [RCV000138069]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 01/10/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACE2   ACOT9   ADGRG2   AP1S2   APOO   ARX   ASB11   ASB9   ATXN3L   BCLAF3   BEND2   BMX   CA5B   CBLL2   CDKL5   CLTRN   CNKSR2   CTPS2   CXorf58   DCAF8L1   DCAF8L2   DDX53   EGFL6   EIF1AX   EIF1AX-AS1   EIF2S3   FAM9C   FANCB   FRMPD4   GEMIN8   GLRA2   GPM6B   GRPR   IL1RAPL1   INE2   KLHL15   KLHL34   LINC01203   LINC01456   LINC02154   MAGEB1   MAGEB10   MAGEB17   MAGEB18   MAGEB2   MAGEB3   MAGEB4   MAGEB5   MAGEB6   MAP3K15   MAP7D2   MBTPS2   MIR23C   MIR4666B   MIR4768   MIR548AM   MIR6086   MIR6134   MOSPD2   NHS   NHS-AS1   NR0B1   OFD1   PCYT1B   PCYT1B-AS1   PDHA1   PDK3   PHEX   PHEX-AS1   PHKA2   PHKA2-AS1   PIGA   PIR   POLA1   PPEF1   PPEF1-AS1   PPP4R3C   PRDX4   PRPS2   PTCHD1   PTCHD1-AS   RAB9A   RAI2   RBBP7   REPS2   RPS6KA3   RS1   S100G   SAT1   SCARNA23   SCARNA9L   SCML1   SCML2   SH3KBP1   SMPX   SMS   SUPT20HL1   SUPT20HL2   SYAP1   TCEANC   TLR7   TLR8   TLR8-AS1   TMSB4X   TRAPPC2   TRV-TAC1-2   TXLNG   VEGFD   YY2   ZFX   ZFX-AS1   ZRSR2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_12254555)_(30410580_?)del
NC_000023.10:g.(?_12272674)_(30428697_?)del
NC_000023.9:g.(?_12182595)_(30338618_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X12,254,555 - 30,410,580CLINVAR
GRCh37X12,272,674 - 30,428,697CLINVAR
Build 36X12,182,595 - 30,338,618CLINVAR
Cytogenetic MapXXp22.2-21.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485618
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-09-10
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.