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Variant : CV72583 (GRCh38/hg38 Xq26.1-26.2(chrX:131042072-131826589)x1) Homo sapiens

Symbol: CV72583
Name: GRCh38/hg38 Xq26.1-26.2(chrX:131042072-131826589)x1
Condition: Imperforate anus [RCV000051730]|See cases [RCV000051730]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ARHGAP36   FIRRE   IGSF1   LINC01201   OR13H1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_131042072)_(131826589_?)del
NC_000023.10:g.(?_130176046)_(130960617_?)del
NC_000023.9:g.(?_130003727)_(130788298_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X131,042,072 - 131,826,589CLINVAR
GRCh37X130,176,046 - 130,960,617CLINVAR
Build 36X130,003,727 - 130,788,298CLINVAR
Cytogenetic MapXXq26.1-26.2CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: 1-5 / 10 000



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618743
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.