Variant #0000002191 (NC_000014.9:g.104772855T>G, NC_000014.9(NM_005163.2):c.1172+23A>C (AKT1))

Individual ID 00000459
Chromosome 14
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.104772855T>G
Published as -
Reference Han Chern Loh et al(2013)
DB-ID AKT1_000004
dbSNP ID rs2494732
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 2021-02-25 10:51:26 +08:00 (CST)
Date last edited 2021-08-01 13:07:38 +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     
AKT1 NM_001014431.1 +/. - c.1172+23A>C - r.(=) p.(=) -
AKT1 NM_001014432.1 +/. - c.1172+23A>C - r.(=) p.(=) -
AKT1 NM_005163.2 +/. - c.1172+23A>C - r.(=) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000500 DNA SEQ AKT1 6 Nur Aisyah Athirah