ClinVar

NM_000530.8(MPZ):c.59C>T (p.Ser20Phe)

Genes:

SDHC:succinate dehydrogenase complex subunit C [Gene - OMIM - HGNC]
MPZ:myelin protein zero [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.3

Genomic location:

• Chr1: 161309847 (on Assembly GRCh38)
• Chr1: 161279637 (on Assembly GRCh37)

Preferred name:

NM_000530.8(MPZ):c.59C>T (p.Ser20Phe)

HGVS:

• NC_000001.11:g.161309847G>A
• NG_008055.1:g.5126C>T
• NG_012767.1:g.472G>A
• NM_000530.8:c.59C>TMANE SELECT
• NM_001315491.2:c.59C>T
• NP_000521.2:p.Ser20Phe
• NP_001302420.1:p.Ser20Phe
• LRG_256t1:c.59C>T
• LRG_256:g.5126C>T
• LRG_317:g.472G>A
• NC_000001.10:g.161279637G>A
• NM_000530.6:c.59C>T

This HGVS expression did not pass validation

Protein change:

S20F

Links:

dbSNP: rs932826788

NCBI 1000 Genomes Browser:

rs932826788

Molecular consequence:

• NM_000530.8:c.59C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001315491.2:c.59C>T - missense variant - [Sequence Ontology: SO:0001583]