ClinVar

NM_000530.8(MPZ):c.302G>A (p.Trp101Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.3

Genomic location:

• Chr1: 161306854 (on Assembly GRCh38)
• Chr1: 161276644 (on Assembly GRCh37)

Preferred name:

NM_000530.8(MPZ):c.302G>A (p.Trp101Ter)

HGVS:

• NC_000001.11:g.161306854C>T
• NG_008055.1:g.8119G>A
• NM_000530.8:c.302G>AMANE SELECT
• NM_001315491.2:c.302G>A
• NP_000521.2:p.Trp101Ter
• NP_001302420.1:p.Trp101Ter
• LRG_256t1:c.302G>A
• LRG_256:g.8119G>A
• NC_000001.10:g.161276644C>T
• NM_000530.6:c.302G>A

This HGVS expression did not pass validation

Protein change:

W101*

Links:

dbSNP: rs1017715903

NCBI 1000 Genomes Browser:

rs1017715903

Molecular consequence:

• NM_000530.8:c.302G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001315491.2:c.302G>A - nonsense - [Sequence Ontology: SO:0001587]