ClinVar

NM_006440.5(TXNRD2):c.775-19G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.21

Genomic location:

• Chr22: 19895600 (on Assembly GRCh38)
• Chr22: 19883123 (on Assembly GRCh37)

Preferred name:

NM_006440.5(TXNRD2):c.775-19G>A

HGVS:

• NC_000022.11:g.19895600C>T
• NG_011835.1:g.51237G>A
• NM_001282512.3:c.775-19G>A
• NM_001352300.2:c.772-19G>A
• NM_001352301.2:c.685-19G>A
• NM_001352302.2:c.487-19G>A
• NM_001352303.2:c.679-19G>A
• NM_006440.5:c.775-19G>AMANE SELECT
• LRG_417t1:c.775-19G>A
• LRG_417:g.51237G>A
• NC_000022.10:g.19883123C>T
• NM_006440.3:c.775-19G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs189646218

NCBI 1000 Genomes Browser:

rs189646218

Molecular consequence:

• NM_001282512.3:c.775-19G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352300.2:c.772-19G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352301.2:c.685-19G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352302.2:c.487-19G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352303.2:c.679-19G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_006440.5:c.775-19G>A - intron variant - [Sequence Ontology: SO:0001627]