ClinVar

NM_032409.3(PINK1):c.1220G>T (p.Arg407Leu)

Genes:

PINK1-AS:PINK1 antisense RNA [Gene - HGNC]
PINK1:PTEN induced kinase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.12

Genomic location:

• Chr1: 20648601 (on Assembly GRCh38)
• Chr1: 20975094 (on Assembly GRCh37)

Preferred name:

NM_032409.3(PINK1):c.1220G>T (p.Arg407Leu)

HGVS:

• NC_000001.11:g.20648601G>T
• NG_008164.1:g.20147G>T
• NM_032409.3:c.1220G>TMANE SELECT
• NP_115785.1:p.Arg407Leu
• NC_000001.10:g.20975094G>T
• NR_046507.1:n.3593C>A

This HGVS expression did not pass validation

Protein change:

R407L

Molecular consequence:

• NM_032409.3:c.1220G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_046507.1:n.3593C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1