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Variant : CV73264 (GRCh38/hg38 Xq25-26.2(chrX:128395951-132383344)x2) Homo sapiens

Symbol: CV73264
Name: GRCh38/hg38 Xq25-26.2(chrX:128395951-132383344)x2
Condition: Nonsyndromic microcephaly [RCV000052446]|See cases [RCV000052446]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AIFM1   APLN   ARHGAP36   BCORL1   ELF4   ENOX2   FIRRE   FRMD7   GPR119   IGSF1   LINC01201   MBNL3   OCRL   OR13H1   RAB33A   RAP2C   RAP2C-AS1   RBMX2   SASH3   SLC25A14   SMARCA1   STK26   UTP14A   XPNPEP2   ZDHHC9   ZNF280C  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_128395951)_(132383344_?)dup
NC_000023.10:g.(?_127529929)_(131517372_?)dup
NC_000023.9:g.(?_127357610)_(131345053_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X128,395,951 - 132,383,344CLINVAR
GRCh37X127,529,929 - 131,517,372CLINVAR
Build 36X127,357,610 - 131,345,053CLINVAR
Cytogenetic MapXXq25-26.2CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619432
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
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.