Full data view for gene TGM1

Information The variants shown are described using the NM_000359.2 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     

Allele     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Template     

Technique     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Remarks     

Microattribution     

Panel size     

Owner     
+/. - c.379C>T - r.(?) p.(Arg127*) Pathogenic Unknown g.24261824G>A - Sanae Numata et al.(2015) TGM1_000001 rs886041250 1/17 - DNA PCR ARCI Sanae Numata et al.(2015) - Malaysia Malay - - - 1 Nur Aisyah Athirah
+/. - c.420A>G - r.(?) p.(Ile140Met) Likely pathogenic Unknown g.24261783T>C - Sanae Numata et al.(2015) TGM1_000003 rs139208806 1/17 - DNA PCR ARCI Sanae Numata et al.(2015) - Malaysia Malay - - - 1 Nur Aisyah Athirah
+/. - c.550C>T - r.(?) p.(Pro184Ser) Conflicting interpretations of pathogenicity Unknown g.24260657G>A - Sanae Numata et al.(2015) TGM1_000005 rs200517023 1/17 - DNA PCR ARCI Sanae Numata et al.(2015) - Malaysia Indian - - - 1 Nur Aisyah Athirah
+/. - c.984+1G>A - r.spl? p.? - Unknown g.24259703C>T - Sanae Numata et al.(2015) TGM1_000006 rs577027430 1/17 - DNA PCR ARCI Sanae Numata et al.(2015) - Malaysia Indian - - - 1 Nur Aisyah Athirah
+/. - c.1070G>A - r.(?) p.(Gly357Asp) - Unknown g.24259164C>T - Sanae Numata et al.(2015) TGM1_000004 rs143444882 1/17 - DNA PCR ARCI Sanae Numata et al.(2015) - Malaysia Malay - - - 1 Nur Aisyah Athirah
+/. - c.2290delC - r.(?) p.(Arg764Alafs*42) - Unknown g.24249477delG - Sanae Numata et al.(2015) TGM1_000002 rs1064794659 1/17 - DNA PCR ARCI Sanae Numata et al.(2015) - Malaysia Malay - - - 1 Nur Aisyah Athirah
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