ClinVar

NM_000530.8(MPZ):c.616G>T (p.Gly206Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.3

Genomic location:

• Chr1: 161306137 (on Assembly GRCh38)
• Chr1: 161275927 (on Assembly GRCh37)

Preferred name:

NM_000530.8(MPZ):c.616G>T (p.Gly206Ter)

HGVS:

• NC_000001.11:g.161306137C>A
• NG_008055.1:g.8836G>T
• NM_000530.8:c.616G>TMANE SELECT
• NM_001315491.2:c.616G>T
• NP_000521.2:p.Gly206Ter
• NP_001302420.1:p.Gly206Ter
• LRG_256t1:c.616G>T
• LRG_256:g.8836G>T
• NC_000001.10:g.161275927C>A
• NM_000530.6:c.616G>T

This HGVS expression did not pass validation

Protein change:

G206*

Links:

dbSNP: rs1571817547

NCBI 1000 Genomes Browser:

rs1571817547

Molecular consequence:

• NM_000530.8:c.616G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001315491.2:c.616G>T - nonsense - [Sequence Ontology: SO:0001587]