ClinVar

NM_006440.5(TXNRD2):c.896G>A (p.Ser299Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.21

Genomic location:

• Chr22: 19895460 (on Assembly GRCh38)
• Chr22: 19882983 (on Assembly GRCh37)

Preferred name:

NM_006440.5(TXNRD2):c.896G>A (p.Ser299Asn)

HGVS:

• NC_000022.11:g.19895460C>T
• NG_011835.1:g.51377G>A
• NM_001282512.3:c.896G>A
• NM_001352300.2:c.893G>A
• NM_001352301.2:c.806G>A
• NM_001352302.2:c.608G>A
• NM_001352303.2:c.800G>A
• NM_006440.5:c.896G>AMANE SELECT
• NP_001269441.1:p.Ser299Asn
• NP_001339229.1:p.Ser298Asn
• NP_001339230.1:p.Ser269Asn
• NP_001339231.1:p.Ser203Asn
• NP_001339232.1:p.Ser267Asn
• NP_006431.2:p.Ser299Asn
• LRG_417:g.51377G>A
• NC_000022.10:g.19882983C>T
• NM_001282512.1:c.896G>A
• NR_147957.2:n.854G>A

This HGVS expression did not pass validation

Protein change:

S203N

Links:

dbSNP: rs779054925

NCBI 1000 Genomes Browser:

rs779054925

Molecular consequence:

• NM_001282512.3:c.896G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352300.2:c.893G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352301.2:c.806G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352302.2:c.608G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352303.2:c.800G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006440.5:c.896G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_147957.2:n.854G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

2