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Variant : CV73211 (GRCh38/hg38 Xp11.22(chrX:50916108-53902080)x2) Homo sapiens

Symbol: CV73211
Name: GRCh38/hg38 Xp11.22(chrX:50916108-53902080)x2
Condition: Nonsyndromic microcephaly [RCV000052391]|See cases [RCV000052391]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: BMP15   CENPVL1   CENPVL2   CENPVL3   EZHIP   FAM156A   FAM156B   GPR173   GSPT2   HSD17B10   HUWE1   IQSEC2   KANTR   KDM5C   LINC01284   LINC01496   MAGED1   MAGED4   MAGED4B   MIR6857   MIR6894   MIR6895   MIR8088   MIR98   MIRLET7F2   NUDT10   NUDT11   RIBC1   SMC1A   SNORA11D   SNORA11E   SPANXN5   SSX2   SSX2B   SSX7   TSPYL2   XAGE1A   XAGE1B   XAGE2   XAGE3   XAGE5  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_50916108)_(53902080_?)dup
NC_000023.10:g.(?_50659108)_(53928500_?)dup
NC_000023.9:g.(?_50675848)_(53945225_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X50,916,108 - 53,902,080CLINVAR
GRCh37X50,659,108 - 53,928,500CLINVAR
Build 36X50,675,848 - 53,945,225CLINVAR
Cytogenetic MapXXp11.22CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619379
Created: 2014-05-13
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.