ClinVar

NM_000530.8(MPZ):c.394C>A (p.Pro132Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.3

Genomic location:

• Chr1: 161306762 (on Assembly GRCh38)
• Chr1: 161276552 (on Assembly GRCh37)

Preferred name:

NM_000530.8(MPZ):c.394C>A (p.Pro132Thr)

HGVS:

• NC_000001.11:g.161306762G>T
• NG_008055.1:g.8211C>A
• NM_000530.8:c.394C>AMANE SELECT
• NM_001315491.2:c.394C>A
• NP_000521.2:p.Pro132Thr
• NP_001302420.1:p.Pro132Thr
• LRG_256t1:c.394C>A
• LRG_256:g.8211C>A
• NC_000001.10:g.161276552G>T
• NM_000530.6:c.394C>A

This HGVS expression did not pass validation

Protein change:

P132T

Links:

dbSNP: rs1553259649

NCBI 1000 Genomes Browser:

rs1553259649

Molecular consequence:

• NM_000530.8:c.394C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001315491.2:c.394C>A - missense variant - [Sequence Ontology: SO:0001583]