ClinVar

NM_001093771.3(TXNRD1):c.310G>A (p.Gly104Ser)

Gene:

TXNRD1:thioredoxin reductase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q23.3

Genomic location:

• Chr12: 104288936 (on Assembly GRCh38)
• Chr12: 104682714 (on Assembly GRCh37)

Preferred name:

NM_001093771.3(TXNRD1):c.310G>A (p.Gly104Ser)

HGVS:

• NC_000012.12:g.104288936G>A
• NG_029392.1:g.78156G>A
• NM_001093771.3:c.310G>AMANE SELECT
• NM_001261445.2:c.10G>A
• NM_001261446.2:c.-132G>A
• NM_003330.4:c.16G>A
• NM_182729.3:c.-141G>A
• NM_182742.3:c.-37+1590G>A
• NM_182743.3:c.-37+1827G>A
• NP_001087240.1:p.Gly104Ser
• NP_001248374.1:p.Gly4Ser
• NP_003321.3:p.Gly6Ser
• NC_000012.11:g.104682714G>A
• NM_001093771.2:c.310G>A

This HGVS expression did not pass validation

Protein change:

G104S

Links:

dbSNP: rs200037001

NCBI 1000 Genomes Browser:

rs200037001

Molecular consequence:

• NM_001261446.2:c.-132G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_182729.3:c.-141G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_182742.3:c.-37+1590G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_182743.3:c.-37+1827G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001093771.3:c.310G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001261445.2:c.10G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003330.4:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]