ClinVar

NM_002435.3(MPI):c.780T>C (p.Leu260=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q24.1

Genomic location:

• Chr15: 74896261 (on Assembly GRCh38)
• Chr15: 75188602 (on Assembly GRCh37)

Preferred name:

NM_002435.3(MPI):c.780T>C (p.Leu260=)

HGVS:

• NC_000015.10:g.74896261T>C
• NG_008921.1:g.11193T>C
• NM_001289155.2:c.780T>C
• NM_001289156.2:c.630T>C
• NM_001289157.2:c.597T>C
• NM_001330372.2:c.720T>C
• NM_002435.3:c.780T>CMANE SELECT
• NP_001276084.1:p.Leu260=
• NP_001276085.1:p.Leu210=
• NP_001276086.1:p.Leu199=
• NP_001317301.1:p.Leu240=
• NP_002426.1:p.Leu260=
• NC_000015.9:g.75188602T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs371012451

NCBI 1000 Genomes Browser:

rs371012451

Molecular consequence:

• NM_001289155.2:c.780T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001289156.2:c.630T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001289157.2:c.597T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330372.2:c.720T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002435.3:c.780T>C - synonymous variant - [Sequence Ontology: SO:0001819]