Variant #0000002414 (NC_000014.9:g.24260657G>A, TGM1(NM_000359.2):c.550C>T)

Individual ID 00000523
Chromosome 14
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.24260657G>A
Published as -
Reference Sanae Numata et al.(2015)
DB-ID TGM1_000005
dbSNP ID rs200517023
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
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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.550C>T - r.(?) p.(Pro184Ser) Conflicting interpretations of pathogenicity



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000571 DNA PCR TGM1 2 Nur Aisyah Athirah