ClinVar

NM_000530.8(MPZ):c.24C>T (p.Ser8=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.3

Genomic location:

• Chr1: 161309882 (on Assembly GRCh38)
• Chr1: 161279672 (on Assembly GRCh37)

Preferred name:

NM_000530.8(MPZ):c.24C>T (p.Ser8=)

HGVS:

• NC_000001.11:g.161309882G>A
• NG_008055.1:g.5091C>T
• NG_012767.1:g.507G>A
• NM_000530.8:c.24C>TMANE SELECT
• NM_001315491.2:c.24C>T
• NP_000521.2:p.Ser8=
• NP_001302420.1:p.Ser8=
• LRG_256t1:c.24C>T
• LRG_256:g.5091C>T
• LRG_317:g.507G>A
• NC_000001.10:g.161279672G>A
• NM_000530.6:c.24C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs144841836

NCBI 1000 Genomes Browser:

rs144841836

Molecular consequence:

• NM_000530.8:c.24C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001315491.2:c.24C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

3