ClinVar

NM_000530.8(MPZ):c.499G>A (p.Gly167Arg)

Gene:

MPZ:myelin protein zero [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.3

Genomic location:

• Chr1: 161306414 (on Assembly GRCh38)
• Chr1: 161276204 (on Assembly GRCh37)

Preferred name:

NM_000530.8(MPZ):c.499G>A (p.Gly167Arg)

HGVS:

• NC_000001.11:g.161306414C>T
• NG_008055.1:g.8559G>A
• NM_000530.8:c.499G>AMANE SELECT
• NM_001315491.2:c.499G>A
• NP_000521.2:p.Gly167Arg
• NP_001302420.1:p.Gly167Arg
• LRG_256t1:c.499G>A
• LRG_256:g.8559G>A
• LRG_256p1:p.Gly167Arg
• NC_000001.10:g.161276204C>T
• NM_000530.6:c.499G>A
• P25189:p.Gly167Arg

This HGVS expression did not pass validation

Protein change:

G167R

Links:

UniProtKB: P25189#VAR_004544; dbSNP: rs121913586

Molecular consequence:

• NM_000530.8:c.499G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001315491.2:c.499G>A - missense variant - [Sequence Ontology: SO:0001583]