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Variant : CV32555 (CYP11A1, 6-BP INS) Homo sapiens

Symbol: CV32555
Name: CYP11A1, 6-BP INS
Condition: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV000019068]
Clinical Significance: pathogenic
Last Evaluated: 10/07/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CYP11A1  
Variant Type: insertion (SO:0000667)
Source: CLINVAR
Nucleotide Change: 6-bp ins
Evidence: literature only
Position
Human AssemblyChrPosition (strand)Source
Cytogenetic Map1515q23-q24CLINVAR
Trait Synonyms: P450scc DEFICIENCY
Age Of Onset: infancy|neonatal
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8566266
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-08-06
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.