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Variant : CV158089 (GRCh38/hg38 Xp11.22-q11.1(chrX:53750365-63089185)x2) Homo sapiens

Symbol: CV158089
Name: GRCh38/hg38 Xp11.22-q11.1(chrX:53750365-63089185)x2
Condition: See cases [RCV000137412]
Clinical Significance: pathogenic
Last Evaluated: 07/05/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ALAS2   APEX2   FAAH2   FAM104B   FAM120C   FGD1   FOXR2   GNL3L   ITIH6   KLF8   MAGED2   MAGEH1   MIR4536-1   MIR4536-2   MTRNR2L10   NBDY   NLRP2B   PAGE2   PAGE2B   PAGE3   PAGE5   PFKFB1   PHF8   RRAGB   SNORA109   SNORA11   SNORA11G   SPIN2A   SPIN2B   SPIN3   TRO   TSR2   UBQLN2   USP51   WNK3   ZXDA   ZXDB  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_53750365)_(63089185_?)dup
NC_000023.10:g.(?_53776863)_(62203737_?)dup
NC_000023.9:g.(?_53793588)_(62225380_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X53,750,365 - 63,089,185CLINVAR
GRCh37X53,776,863 - 62,203,737 (+)CLINVAR
Build 36X53,793,588 - 62,225,380CLINVAR
Cytogenetic MapXXp11.22-q11.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9484968
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
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.