ClinVar

NM_000581.4(GPX1):c.599C>T (p.Pro200Leu)

Gene:

GPX1:glutathione peroxidase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

• Chr3: 49357401 (on Assembly GRCh38)
• Chr3: 49394834 (on Assembly GRCh37)

Preferred name:

NM_000581.4(GPX1):c.599C>T (p.Pro200Leu)

Other names:

P197L

HGVS:

• NC_000003.12:g.49357401G>A
• NG_012264.1:g.5958C>T
• NG_051308.1:g.59697C>T
• NM_000581.4:c.599C>TMANE SELECT
• NM_001329455.2:c.461C>T
• NM_001329502.2:c.*425C>T
• NM_001329503.2:c.*105C>T
• NM_201397.3:c.*581C>T
• NP_000572.2:p.Pro200Leu
• NP_001316384.1:p.Pro154Leu
• LRG_1085:g.59697C>T
• NC_000003.11:g.49394834G>A
• NM_000581.2:c.599C>T
• P07203:p.Pro200Leu

This HGVS expression did not pass validation

Protein change:

P154L; PRO197LEU

Links:

UniProtKB: P07203#VAR_007904; OMIM: 138320.0001; dbSNP: rs1050450

NCBI 1000 Genomes Browser:

rs1050450

Molecular consequence:

• NM_001329502.2:c.*425C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001329503.2:c.*105C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_201397.3:c.*581C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000581.4:c.599C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001329455.2:c.461C>T - missense variant - [Sequence Ontology: SO:0001583]