Variant #0000002607 (NC_000006.12:g.5777C>G, NC_000006.12(NM_000500.9):c.293-13C>G (CYP21A2))

Individual ID 00000582
Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5777C>G
Published as IVS2-13A/C>G
Reference P Balraj et al.(2013)
DB-ID CYP21A2_000002
dbSNP ID rs6467
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 2021-04-18 10:57:28 +08:00 (CST)
Date last edited 2021-08-01 14:09:55 +08:00 (CST)
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Variant on transcripts


Gene     

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Clinical classification     
CYP21A2 NM_000500.9 +/. 2i c.293-13C>G - r.(=) p.(=) Pathogenic



Screenings


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Owner     
0000000643 DNA MLPA;PCRdig;SEQ;Southern CYP21A2 5 Nur Aisyah Athirah