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Variant : CV614106 (GRCh37/hg19 Xq28(chrX:152980470-153032459)) Homo sapiens

Symbol: CV614106
Name: GRCh37/hg19 Xq28(chrX:152980470-153032459)
Condition: Adrenoleukodystrophy [RCV000767810]
Clinical Significance: pathogenic
Last Evaluated: 11/01/2018
Review Status: criteria provided, single submitter
Related Genes: ABCD1   BCAP31   PLXNB3  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37X152,980,470 - 153,032,459CLINVAR
Cytogenetic MapXXq28CLINVAR
Trait Synonyms: ADDISON DISEASE AND CEREBRAL SCLEROSIS; Adrenomyeloneuropathy; BRONZE SCHILDER DISEASE; Chromosome Xq28 deletion syndrome; MELANODERMIC LEUKODYSTROPHY; SIEMERLING-CREUTZFELDT DISEASE



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14399760
Created: 2019-05-07
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.