ClinVar

NM_000530.8(MPZ):c.419C>T (p.Ser140Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.3

Genomic location:

• Chr1: 161306737 (on Assembly GRCh38)
• Chr1: 161276527 (on Assembly GRCh37)

Preferred name:

NM_000530.8(MPZ):c.419C>T (p.Ser140Phe)

HGVS:

• NC_000001.11:g.161306737G>A
• NG_008055.1:g.8236C>T
• NM_000530.8:c.419C>TMANE SELECT
• NM_001315491.2:c.419C>T
• NP_000521.2:p.Ser140Phe
• NP_001302420.1:p.Ser140Phe
• LRG_256t1:c.419C>T
• LRG_256:g.8236C>T
• NC_000001.10:g.161276527G>A
• NM_000530.6:c.419C>T

This HGVS expression did not pass validation

Protein change:

S140F

Links:

dbSNP: rs863224449

NCBI 1000 Genomes Browser:

rs863224449

Molecular consequence:

• NM_000530.8:c.419C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001315491.2:c.419C>T - missense variant - [Sequence Ontology: SO:0001583]