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Variant : CV820436 (NC_000012.11:g.(?_6438458)_(7362839_?)dup) Homo sapiens

Symbol: CV820436
Name: NC_000012.11:g.(?_6438458)_(7362839_?)dup
Condition: Neonatal adrenoleucodystrophy [RCV001031288]
Clinical Significance: uncertain significance
Last Evaluated: 12/30/2019
Review Status: criteria provided, single submitter
Related Genes: ACRBP   ATN1   C12orf57   C1R   C1RL   C1S   CD27   CD4   CDCA3   CHD4   CLSTN3   COPS7A   EMG1   ENO2   GAPDH   GNB3   GPR162   IFFO1   ING4   LAG3   LPAR5   LPCAT3   LRRC23   LTBR   MIR141   MIR200C   MLF2   MRPL51   NCAPD2   NOP2   P3H3   PEX5   PHB2   PIANP   PTMS   PTPN6   RBP5   SCNN1A   SPSB2   TAPBPL   TNFRSF1A   TPI1   USP5   VAMP1   ZNF384  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000012.11:g.(?_6438458)_(7362839_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh37126,438,458 - 7,362,839CLINVAR
Cytogenetic Map1212p13.31CLINVAR
Trait Synonyms: Adrenoleukodystrophy autosomal neonatal form; PEROXISOME BIOGENESIS DISORDER 2B



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 26906232
Created: 2020-05-12
Species: Homo sapiens
Last Modified: 2020-09-08
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.