ClinVar

NM_000530.8(MPZ):c.366T>G (p.Asn122Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.3

Genomic location:

• Chr1: 161306790 (on Assembly GRCh38)
• Chr1: 161276580 (on Assembly GRCh37)

Preferred name:

NM_000530.8(MPZ):c.366T>G (p.Asn122Lys)

HGVS:

• NC_000001.11:g.161306790A>C
• NG_008055.1:g.8183T>G
• NM_000530.8:c.366T>GMANE SELECT
• NM_001315491.2:c.366T>G
• NP_000521.2:p.Asn122Lys
• NP_001302420.1:p.Asn122Lys
• LRG_256:g.8183T>G
• NC_000001.10:g.161276580A>C

This HGVS expression did not pass validation

Protein change:

N122K

Links:

dbSNP: rs1064797124

NCBI 1000 Genomes Browser:

rs1064797124

Molecular consequence:

• NM_000530.8:c.366T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001315491.2:c.366T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2