ClinVar

NM_000530.8(MPZ):c.244T>C (p.Tyr82His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.3

Genomic location:

• Chr1: 161306912 (on Assembly GRCh38)
• Chr1: 161276702 (on Assembly GRCh37)

Preferred name:

NM_000530.8(MPZ):c.244T>C (p.Tyr82His)

HGVS:

• NC_000001.11:g.161306912A>G
• NG_008055.1:g.8061T>C
• NM_000530.8:c.244T>CMANE SELECT
• NM_001315491.2:c.244T>C
• NP_000521.2:p.Tyr82His
• NP_000521.2:p.Tyr82His
• NP_001302420.1:p.Tyr82His
• LRG_256t1:c.244T>C
• LRG_256:g.8061T>C
• LRG_256p1:p.Tyr82His
• NC_000001.10:g.161276702A>G
• NM_000530.5:c.274T>C
• NM_000530.6:c.244T>C

This HGVS expression did not pass validation

Protein change:

Y82H

Links:

dbSNP: rs281865124

NCBI 1000 Genomes Browser:

rs281865124

Molecular consequence:

• NM_000530.8:c.244T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001315491.2:c.244T>C - missense variant - [Sequence Ontology: SO:0001583]