ClinVar

NM_004562.3(PRKN):c.125G>A (p.Arg42His)

Gene:

PRKN:parkin RBR E3 ubiquitin protein ligase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q26

Genomic location:

• Chr6: 162443356 (on Assembly GRCh38)
• Chr6: 162864388 (on Assembly GRCh37)

Preferred name:

NM_004562.3(PRKN):c.125G>A (p.Arg42His)

HGVS:

• NC_000006.12:g.162443356C>T
• NG_008289.2:g.289447G>A
• NM_004562.3:c.125G>AMANE SELECT
• NM_013987.3:c.125G>A
• NM_013988.3:c.125G>A
• NP_004553.2:p.Arg42His
• NP_054642.2:p.Arg42His
• NP_054643.2:p.Arg42His
• NC_000006.11:g.162864388C>T
• NM_004562.2:c.125G>A

This HGVS expression did not pass validation

Protein change:

R42H

Links:

dbSNP: rs368134308

NCBI 1000 Genomes Browser:

rs368134308

Molecular consequence:

• NM_004562.3:c.125G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_013987.3:c.125G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_013988.3:c.125G>A - missense variant - [Sequence Ontology: SO:0001583]