ClinVar

NM_006440.5(TXNRD2):c.366G>T (p.Pro122=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.21

Genomic location:

• Chr22: 19918868 (on Assembly GRCh38)
• Chr22: 19906391 (on Assembly GRCh37)

Preferred name:

NM_006440.5(TXNRD2):c.366G>T (p.Pro122=)

HGVS:

• NC_000022.11:g.19918868C>A
• NG_011835.1:g.27969G>T
• NM_001282512.3:c.366G>T
• NM_001352300.2:c.363G>T
• NM_001352301.2:c.276G>T
• NM_001352302.2:c.78G>T
• NM_001352303.2:c.270G>T
• NM_006440.5:c.366G>TMANE SELECT
• NP_001269441.1:p.Pro122=
• NP_001339229.1:p.Pro121=
• NP_001339230.1:p.Pro92=
• NP_001339231.1:p.Pro26=
• NP_001339232.1:p.Pro90=
• NP_006431.2:p.Pro122=
• LRG_417:g.27969G>T
• NC_000022.10:g.19906391C>A
• NR_147957.2:n.324G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs3747068

NCBI 1000 Genomes Browser:

rs3747068

Molecular consequence:

• NR_147957.2:n.324G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001282512.3:c.366G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352300.2:c.363G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352301.2:c.276G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352302.2:c.78G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352303.2:c.270G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006440.5:c.366G>T - synonymous variant - [Sequence Ontology: SO:0001819]