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Variant : CV341298 (NM_000781.2(CYP11A1):c.1164C>T (p.His388=)) Homo sapiens

Symbol: CV341298
Name: NM_000781.2(CYP11A1):c.1164C>T (p.His388=)
Condition: Congenital Adrenal Insufficiency [RCV000266397]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: CYP11A1  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_000781.2:c.1164C>T
NG_007973.1:g.33433C>T
NC_000015.10:g.74339309G>A
NC_000015.9:g.74631650G>A
NP_000772.2:p.His388=
Position
Human AssemblyChrPosition (strand)Source
GRCh381574,339,309 - 74,339,309CLINVAR
GRCh371574,631,650 - 74,631,650CLINVAR
Cytogenetic Map1515q24.1CLINVAR



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11613237
Created: 2017-01-11
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.