ClinVar

NM_007262.5(PARK7):c.436G>A (p.Val146Met)

Gene:

PARK7:Parkinsonism associated deglycase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.23

Genomic location:

• Chr1: 7984920 (on Assembly GRCh38)
• Chr1: 8044980 (on Assembly GRCh37)

Preferred name:

NM_007262.5(PARK7):c.436G>A (p.Val146Met)

HGVS:

• NC_000001.11:g.7984920G>A
• NG_008271.1:g.28267G>A
• NM_001123377.2:c.436G>A
• NM_007262.5:c.436G>AMANE SELECT
• NP_001116849.1:p.Val146Met
• NP_009193.2:p.Val146Met
• NC_000001.10:g.8044980G>A

This HGVS expression did not pass validation

Protein change:

V146M

Links:

dbSNP: rs375023875

NCBI 1000 Genomes Browser:

rs375023875

Molecular consequence:

• NM_001123377.2:c.436G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_007262.5:c.436G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1