ClinVar

NM_002435.3(MPI):c.819C>T (p.Asn273=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q24.1

Genomic location:

• Chr15: 74896300 (on Assembly GRCh38)
• Chr15: 75188641 (on Assembly GRCh37)

Preferred name:

NM_002435.3(MPI):c.819C>T (p.Asn273=)

HGVS:

• NC_000015.10:g.74896300C>T
• NG_008921.1:g.11232C>T
• NM_001289155.2:c.819C>T
• NM_001289156.2:c.669C>T
• NM_001289157.2:c.636C>T
• NM_001330372.2:c.759C>T
• NM_002435.3:c.819C>TMANE SELECT
• NP_001276084.1:p.Asn273=
• NP_001276085.1:p.Asn223=
• NP_001276086.1:p.Asn212=
• NP_001317301.1:p.Asn253=
• NP_002426.1:p.Asn273=
• NC_000015.9:g.75188641C>T
• NM_002435.1:c.819C>T
• NM_002435.2:c.819C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs576592379

NCBI 1000 Genomes Browser:

rs576592379

Molecular consequence:

• NM_001289155.2:c.819C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001289156.2:c.669C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001289157.2:c.636C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330372.2:c.759C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002435.3:c.819C>T - synonymous variant - [Sequence Ontology: SO:0001819]