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Variant : CV72601 (GRCh38/hg38 Xq27.3-28(chrX:147151996-150364798)x1) Homo sapiens

Symbol: CV72601
Name: GRCh38/hg38 Xq27.3-28(chrX:147151996-150364798)x1
Condition: Cognitive impairment [RCV000051748]|See cases [RCV000051748]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AFF2   CXorf40A   CXorf40B   FMR1   FMR1-AS1   FMR1NB   HSFX1   HSFX2   HSFX3   HSFX4   IDS   LINC00850   LINC00893   LINC00894   MAGEA11   MAGEA8   MAGEA8-AS1   MAGEA9   MAGEA9B   MAMLD1   MIR2114   MIR506   MIR507   MIR508   MIR509-1   MIR509-2   MIR509-3   MIR510   MIR513A1   MIR513A2   MIR513B   MIR513C   MIR514A1   MIR514A2   MIR514A3   MIR514B   TMEM185A  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_147151996)_(150364798_?)del
NW_004070890.2:g.(?_2676387)_(5744560_?)del
NC_000023.9:g.(?_146041206)_(149283723_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X147,151,996 - 150,364,798CLINVAR
Build 36X146,041,206 - 149,283,723CLINVAR
Cytogenetic MapXXq27.3-28CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618761
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.