ClinVar

NM_001258345.3(PACRGL):c.421G>A (p.Glu141Lys)

Gene:

PACRGL:parkin coregulated like [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p15.31

Genomic location:

• Chr4: 20712842 (on Assembly GRCh38)
• Chr4: 20714465 (on Assembly GRCh37)

Preferred name:

NM_001258345.3(PACRGL):c.421G>A (p.Glu141Lys)

HGVS:

• NC_000004.12:g.20712842G>A
• NM_001130727.3:c.208-590G>A
• NM_001258345.3:c.421G>AMANE SELECT
• NM_001258346.3:c.262G>A
• NM_001317849.3:c.262G>A
• NM_001330745.2:c.262G>A
• NM_001330746.2:c.262G>A
• NM_001330747.2:c.262G>A
• NM_001330748.2:c.262G>A
• NM_145048.5:c.421G>A
• NP_001245274.1:p.Glu141Lys
• NP_001245275.1:p.Glu88Lys
• NP_001304778.1:p.Glu88Lys
• NP_001317674.1:p.Glu88Lys
• NP_001317675.1:p.Glu88Lys
• NP_001317676.1:p.Glu88Lys
• NP_001317677.1:p.Glu88Lys
• NP_659485.1:p.Glu141Lys
• NC_000004.11:g.20714465G>A
• NM_145048.3:c.421G>A
• NR_047661.3:n.500G>A
• NR_133933.2:n.669G>A

This HGVS expression did not pass validation

Protein change:

E141K

Molecular consequence:

• NM_001130727.3:c.208-590G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001258345.3:c.421G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258346.3:c.262G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317849.3:c.262G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330745.2:c.262G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330746.2:c.262G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330747.2:c.262G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330748.2:c.262G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_145048.5:c.421G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_047661.3:n.500G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_133933.2:n.669G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]