ClinVar

NM_000530.8(MPZ):c.1A>G (p.Met1Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.3

Genomic location:

• Chr1: 161309905 (on Assembly GRCh38)
• Chr1: 161279695 (on Assembly GRCh37)

Preferred name:

NM_000530.8(MPZ):c.1A>G (p.Met1Val)

HGVS:

• NC_000001.11:g.161309905T>C
• NG_008055.1:g.5068A>G
• NG_012767.1:g.530T>C
• NM_000530.8:c.1A>GMANE SELECT
• NM_001315491.2:c.1A>G
• NP_000521.2:p.Met1Val
• NP_001302420.1:p.Met1Val
• LRG_256t1:c.1A>G
• LRG_256:g.5068A>G
• LRG_317:g.530T>C
• NC_000001.10:g.161279695T>C
• NM_000530.6:c.1A>G

This HGVS expression did not pass validation

Protein change:

M1V

Links:

dbSNP: rs1427063795

NCBI 1000 Genomes Browser:

rs1427063795

Molecular consequence:

• NM_000530.8:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001315491.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_000530.8:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001315491.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]