ClinVar

NM_006440.5(TXNRD2):c.236G>T (p.Arg79Leu)

Gene:

TXNRD2:thioredoxin reductase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.21

Genomic location:

• Chr22: 19918998 (on Assembly GRCh38)
• Chr22: 19906521 (on Assembly GRCh37)

Preferred name:

NM_006440.5(TXNRD2):c.236G>T (p.Arg79Leu)

HGVS:

• NC_000022.11:g.19918998C>A
• NG_011835.1:g.27839G>T
• NM_001282512.3:c.236G>T
• NM_001352300.2:c.233G>T
• NM_001352301.2:c.146G>T
• NM_001352302.2:c.-53G>T
• NM_001352303.2:c.140G>T
• NM_006440.5:c.236G>TMANE SELECT
• NP_001269441.1:p.Arg79Leu
• NP_001339229.1:p.Arg78Leu
• NP_001339230.1:p.Arg49Leu
• NP_001339232.1:p.Arg47Leu
• NP_006431.2:p.Arg79Leu
• LRG_417:g.27839G>T
• NC_000022.10:g.19906521C>A
• NM_006440.4:c.236G>T
• NR_147957.2:n.194G>T

This HGVS expression did not pass validation

Protein change:

R47L

Links:

dbSNP: rs373979810

NCBI 1000 Genomes Browser:

rs373979810

Molecular consequence:

• NM_001352302.2:c.-53G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001282512.3:c.236G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352300.2:c.233G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352301.2:c.146G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352303.2:c.140G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006440.5:c.236G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_147957.2:n.194G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]