ClinVar

NM_002435.3(MPI):c.1125G>A (p.Gly375=)

Gene:

MPI:mannose phosphate isomerase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q24.1

Genomic location:

• Chr15: 74897583 (on Assembly GRCh38)
• Chr15: 75189924 (on Assembly GRCh37)

Preferred name:

NM_002435.3(MPI):c.1125G>A (p.Gly375=)

HGVS:

• NC_000015.10:g.74897583G>A
• NG_008921.1:g.12515G>A
• NM_001289155.2:c.*52G>A
• NM_001289156.2:c.975G>A
• NM_001289157.2:c.942G>A
• NM_001330372.2:c.1065G>A
• NM_002435.3:c.1125G>AMANE SELECT
• NP_001276085.1:p.Gly325=
• NP_001276086.1:p.Gly314=
• NP_001317301.1:p.Gly355=
• NP_002426.1:p.Gly375=
• NC_000015.9:g.75189924G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs552854858

NCBI 1000 Genomes Browser:

rs552854858

Molecular consequence:

• NM_001289155.2:c.*52G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001289156.2:c.975G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001289157.2:c.942G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330372.2:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002435.3:c.1125G>A - synonymous variant - [Sequence Ontology: SO:0001819]