ClinVar

NM_000530.8(MPZ):c.600G>A (p.Gly200=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.3

Genomic location:

• Chr1: 161306153 (on Assembly GRCh38)
• Chr1: 161275943 (on Assembly GRCh37)

Preferred name:

NM_000530.8(MPZ):c.600G>A (p.Gly200=)

Other names:

p.G200G:GGG>GGA

HGVS:

• NC_000001.11:g.161306153C>T
• NG_008055.1:g.8820G>A
• NM_000530.8:c.600G>AMANE SELECT
• NM_001315491.2:c.600G>A
• NP_000521.2:p.Gly200=
• NP_001302420.1:p.Gly200=
• LRG_256t1:c.600G>A
• LRG_256:g.8820G>A
• NC_000001.10:g.161275943C>T
• NM_000530.6:c.600G>A
• p.Gly200Gly

This HGVS expression did not pass validation

Links:

dbSNP: rs16832790

NCBI 1000 Genomes Browser:

rs16832790

Molecular consequence:

• NM_000530.8:c.600G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001315491.2:c.600G>A - synonymous variant - [Sequence Ontology: SO:0001819]