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Variant : CV73800 (GRCh38/hg38 Xp22.33-22.31(chrX:2782275-8961059)x0) Homo sapiens

Symbol: CV73800
Name: GRCh38/hg38 Xp22.33-22.31(chrX:2782275-8961059)x0
Condition: Macrocephaly [RCV000053011]|See cases [RCV000053011]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ANOS1   ARSD   ARSD-AS1   ARSF   ARSH   ARSL   FAM9A   GYG2   LINC01546   MIR4767   MIR4770   MIR651   MXRA5   NLGN4X   PNPLA4   PRKX   PRKX-AS1   PUDP   SNORA48B   STS   TRI-GAT1-1   TRI-GAT1-2   TRI-GAT1-3   VCX   VCX2   VCX3A   VCX3B   XG  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_2782275)_(8961059_?)del
NC_000023.10:g.(?_2700316)_(8929100_?)del
NC_000023.9:g.(?_2710316)_(8889100_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X2,782,275 - 8,961,059CLINVAR
GRCh37X2,700,316 - 8,929,100CLINVAR
Build 36X2,710,316 - 8,889,100CLINVAR
Cytogenetic MapXXp22.33-22.31CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619975
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
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.