ClinVar

NM_006440.5(TXNRD2):c.374+13C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.21

Genomic location:

• Chr22: 19918847 (on Assembly GRCh38)
• Chr22: 19906370 (on Assembly GRCh37)

Preferred name:

NM_006440.5(TXNRD2):c.374+13C>T

HGVS:

• NC_000022.11:g.19918847G>A
• NG_011835.1:g.27990C>T
• NM_001282512.3:c.374+13C>T
• NM_001352300.2:c.371+13C>T
• NM_001352301.2:c.284+13C>T
• NM_001352302.2:c.86+13C>T
• NM_001352303.2:c.278+13C>T
• NM_006440.5:c.374+13C>TMANE SELECT
• LRG_417t1:c.374+13C>T
• LRG_417:g.27990C>T
• NC_000022.10:g.19906370G>A
• NM_006440.3:c.374+13C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs9606178

NCBI 1000 Genomes Browser:

rs9606178

Molecular consequence:

• NM_001282512.3:c.374+13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352300.2:c.371+13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352301.2:c.284+13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352302.2:c.86+13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352303.2:c.278+13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_006440.5:c.374+13C>T - intron variant - [Sequence Ontology: SO:0001627]