Variant #0000002609 (NC_000006.12:g.7117C>T, NM_000500.9:c.955C>T (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.7117C>T
Published as p.Q318X
Reference P Balraj et al.(2013)
DB-ID CYP21A2_000004
dbSNP ID rs7755898
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 11:04:32 +08:00 (CST)
Date last edited 2021-08-01 14:09:55 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

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DNA change (cDNA)     

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Protein     

Clinical classification     
CYP21A2 NM_000500.9 +/. 8 c.955C>T - r.(?) p.(Gln319*) Pathogenic



Screenings


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Genes screened     

Variants found     

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