ClinVar

NM_002083.4(GPX2):c.91G>A (p.Val31Met)

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: 64942636 (on Assembly GRCh38)
• Chr14: 65409354 (on Assembly GRCh37)

Preferred name:

NM_002083.4(GPX2):c.91G>A (p.Val31Met)

HGVS:

• NC_000014.9:g.64942636C>T
• NM_001202558.2:c.6+18510C>T
• NM_001202559.1:c.327+16556C>T
• NM_002083.4:c.91G>AMANE SELECT
• NP_002074.2:p.Val31Met
• NC_000014.8:g.65409354C>T
• NM_002083.2:c.91G>A
• NR_046320.2:n.110G>A
• NR_046321.2:n.110G>A
• NR_138078.2:n.110G>A

This HGVS expression did not pass validation

Protein change:

V31M

Molecular consequence:

• NM_001202558.2:c.6+18510C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001202559.1:c.327+16556C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_002083.4:c.91G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_046320.2:n.110G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_046321.2:n.110G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_138078.2:n.110G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]