ClinVar

NM_002083.4(GPX2):c.551G>T (p.Arg184Leu)

Genes:

CHURC1-FNTB:CHURC1-FNTB readthrough [Gene - HGNC]
GPX2:glutathione peroxidase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q23.3

Genomic location:

• Chr14: 64939510 (on Assembly GRCh38)
• Chr14: 65406228 (on Assembly GRCh37)

Preferred name:

NM_002083.4(GPX2):c.551G>T (p.Arg184Leu)

HGVS:

• NC_000014.9:g.64939510C>A
• NM_001202558.2:c.6+15384C>A
• NM_001202559.1:c.327+13430C>A
• NM_002083.4:c.551G>TMANE SELECT
• NP_002074.2:p.Arg184Leu
• NC_000014.8:g.65406228C>A
• NM_002083.2:c.551G>T
• NR_046320.2:n.776G>T
• NR_046321.2:n.775G>T
• NR_138078.2:n.780G>T

This HGVS expression did not pass validation

Protein change:

R184L

Molecular consequence:

• NM_001202558.2:c.6+15384C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001202559.1:c.327+13430C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_002083.4:c.551G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_046320.2:n.776G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_046321.2:n.775G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_138078.2:n.780G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]