ClinVar

NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q26

Genomic location:

• Chr6: 161785820 (on Assembly GRCh38)
• Chr6: 162206852 (on Assembly GRCh37)

Preferred name:

NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)

HGVS:

• NC_000006.12:g.161785820G>A
• NG_008289.2:g.946983C>T
• NM_004562.3:c.823C>TMANE SELECT
• NM_013987.3:c.739C>T
• NM_013988.3:c.376C>T
• NP_004553.2:p.Arg275Trp
• NP_054642.2:p.Arg247Trp
• NP_054643.2:p.Arg126Trp
• NC_000006.11:g.162206852G>A
• NM_004562.2:c.823C>T
• O60260:p.Arg275Trp

This HGVS expression did not pass validation

Protein change:

R126W; ARG275TRP

Links:

UniProtKB: O60260#VAR_019752; OMIM: 602544.0017; dbSNP: rs34424986

NCBI 1000 Genomes Browser:

rs34424986

Molecular consequence:

• NM_004562.3:c.823C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_013987.3:c.739C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_013988.3:c.376C>T - missense variant - [Sequence Ontology: SO:0001583]