Variant #0000002296 (NC_000008.11:g.142918184A>G, NM_000498.3:c.-344T>C (CYP11B2))

Individual ID 00000504
Chromosome 8
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.142918184A>G
Published as -
Reference Y Normaznah et al.(2015)
DB-ID CYP11B2_000001
dbSNP ID rs1799998
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-03-10 12:17:10 +08:00 (CST)
Date last edited 2021-08-01 13:20:23 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
CYP11B2 NM_000498.3 +/. - c.-344T>C - r.(=) p.(=) Benign



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000551 DNA PCR CYP11B2 1 Nur Aisyah Athirah