Variant #0000002409 (NC_000014.9:g.24261824G>A, NM_000359.2:c.379C>T (TGM1))

Individual ID 00000520
Chromosome 14
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.24261824G>A
Published as -
Reference Sanae Numata et al.(2015)
DB-ID TGM1_000001
dbSNP ID rs886041250
Frequency 1/17
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 2021-03-16 09:48:07 +08:00 (CST)
Date last edited 2021-08-01 13:26:07 +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     
TGM1 NM_000359.2 +/. - c.379C>T - r.(?) p.(Arg127*) Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000568 DNA PCR TGM1 2 Nur Aisyah Athirah