ClinVar

NM_006440.5(TXNRD2):c.949+42C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.21

Genomic location:

• Chr22: 19895365 (on Assembly GRCh38)
• Chr22: 19882888 (on Assembly GRCh37)

Preferred name:

NM_006440.5(TXNRD2):c.949+42C>T

HGVS:

• NC_000022.11:g.19895365G>A
• NG_011835.1:g.51472C>T
• NM_001282512.3:c.949+42C>T
• NM_001352300.2:c.946+42C>T
• NM_001352301.2:c.859+42C>T
• NM_001352302.2:c.661+42C>T
• NM_001352303.2:c.853+42C>T
• NM_006440.5:c.949+42C>TMANE SELECT
• LRG_417t1:c.949+42C>T
• LRG_417:g.51472C>T
• NC_000022.10:g.19882888G>A
• NM_006440.3:c.949+42C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs5992494

NCBI 1000 Genomes Browser:

rs5992494

Molecular consequence:

• NM_001282512.3:c.949+42C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352300.2:c.946+42C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352301.2:c.859+42C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352302.2:c.661+42C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352303.2:c.853+42C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_006440.5:c.949+42C>T - intron variant - [Sequence Ontology: SO:0001627]