Variant #0000002411 (NC_000014.9:g.24261783T>C, NM_000359.2:c.420A>G (TGM1))

Individual ID 00000521
Chromosome 14
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.24261783T>C
Published as -
Reference Sanae Numata et al.(2015)
DB-ID TGM1_000003
dbSNP ID rs139208806
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 09:59:59 +08:00 (CST)
Date last edited 2021-08-01 13:26:24 +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.420A>G - r.(?) p.(Ile140Met) Likely pathogenic



Screenings


AscendingScreening ID     

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Technique     

Genes screened     

Variants found     

Owner     
0000000569 DNA PCR TGM1 2 Nur Aisyah Athirah