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Variant : CV158047 (GRCh38/hg38 Xp11.21-q11.2(chrX:56127875-63867853)x2) Homo sapiens

Symbol: CV158047
Name: GRCh38/hg38 Xp11.21-q11.2(chrX:56127875-63867853)x2
Condition: See cases [RCV000137371]
Clinical Significance: pathogenic
Last Evaluated: 02/08/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ARHGEF9   ARHGEF9-IT1   FAAH2   KLF8   LINC01278   MIR1468   NBDY   NLRP2B   SPIN2A   SPIN2B   SPIN3   SPIN4   UBQLN2   ZXDA   ZXDB  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_56127875)_(63867853_?)dup
NC_000023.10:g.(?_56154308)_(63087733_?)dup
NC_000023.9:g.(?_56171033)_(63004458_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X56,127,875 - 63,867,853CLINVAR
GRCh37X56,154,308 - 63,087,733CLINVAR
Build 36X56,171,033 - 63,004,458CLINVAR
Cytogenetic MapXXp11.21-q11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9484928
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-06-23
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.