ClinVar

NM_000530.8(MPZ):c.276G>A (p.Val92=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.3

Genomic location:

• Chr1: 161306880 (on Assembly GRCh38)
• Chr1: 161276670 (on Assembly GRCh37)

Preferred name:

NM_000530.8(MPZ):c.276G>A (p.Val92=)

Other names:

V102V

HGVS:

• NC_000001.11:g.161306880C>T
• NG_008055.1:g.8093G>A
• NM_000530.8:c.276G>AMANE SELECT
• NM_001315491.2:c.276G>A
• NP_000521.2:p.Val92=
• NP_001302420.1:p.Val92=
• LRG_256t1:c.276G>A
• LRG_256:g.8093G>A
• NC_000001.10:g.161276670C>T
• NM_000530.6:c.276G>A

This HGVS expression did not pass validation

Protein change:

VAL102VAL

Links:

OMIM: 159440.0035; dbSNP: rs1558154193

NCBI 1000 Genomes Browser:

rs1558154193

Molecular consequence:

• NM_000530.8:c.276G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001315491.2:c.276G>A - synonymous variant - [Sequence Ontology: SO:0001819]