ClinVar

NM_002085.5(GPX4):c.498C>T (p.Thr166=)

Gene:

GPX4:glutathione peroxidase 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 1106263 (on Assembly GRCh38)
• Chr19: 1106262 (on Assembly GRCh37)

Preferred name:

NM_002085.5(GPX4):c.498C>T (p.Thr166=)

HGVS:

• NC_000019.10:g.1106263C>T
• NG_050621.1:g.7338C>T
• NM_001039847.3:c.498C>T
• NM_001039848.4:c.609C>T
• NM_001367832.1:c.417C>T
• NM_002085.5:c.498C>TMANE SELECT
• NP_001034936.1:p.Thr166=
• NP_001034937.1:p.Thr203=
• NP_001354761.1:p.Thr139=
• NP_002076.2:p.Thr166=
• NC_000019.9:g.1106262C>T
• NC_000019.9:g.1106262C>T
• NM_001039848.2:c.609C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs14283

NCBI 1000 Genomes Browser:

rs14283

Molecular consequence:

• NM_001039847.3:c.498C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001039848.4:c.609C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001367832.1:c.417C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002085.5:c.498C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1