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Variant : CV79336 (NC_000023.11:g.153696346_153701690del) Homo sapiens

Symbol: CV79336
Name: NC_000023.11:g.153696346_153701690del
Condition: Chromosome Xq28 deletion syndrome [RCV000059315]
Clinical Significance: pathogenic
Last Evaluated: 10/18/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: BCAP31   SLC6A8  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Nucleotide Change: 5.3-kb del
Evidence: literature only
HGVS Name(s): NC_000023.11:g.153696346_153701690del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,696,346 - 153,701,690CLINVAR
Cytogenetic MapXXq28CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8573587
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.