ClinVar

NM_000530.8(MPZ):c.362A>C (p.Asp121Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.3

Genomic location:

• Chr1: 161306794 (on Assembly GRCh38)
• Chr1: 161276584 (on Assembly GRCh37)

Preferred name:

NM_000530.8(MPZ):c.362A>C (p.Asp121Ala)

HGVS:

• NC_000001.11:g.161306794T>G
• NG_008055.1:g.8179A>C
• NM_000530.8:c.362A>CMANE SELECT
• NM_001315491.2:c.362A>C
• NP_000521.2:p.Asp121Ala
• NP_001302420.1:p.Asp121Ala
• LRG_256t1:c.362A>C
• LRG_256:g.8179A>C
• NC_000001.10:g.161276584T>G
• NM_000530.6:c.362A>C

This HGVS expression did not pass validation

Protein change:

D121A

Links:

dbSNP: rs1571818953

NCBI 1000 Genomes Browser:

rs1571818953

Molecular consequence:

• NM_000530.8:c.362A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001315491.2:c.362A>C - missense variant - [Sequence Ontology: SO:0001583]