ClinVar

NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter)

Gene:

DYRK1A:dual specificity tyrosine phosphorylation regulated kinase 1A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.13

Genomic location:

• Chr21: 37486563 (on Assembly GRCh38)
• Chr21: 38858865 (on Assembly GRCh37)

Preferred name:

NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter)

Other names:

NM_001347721.2(DYRK1A):c.586C>T; p.Arg196Ter

HGVS:

• NC_000021.9:g.37486563C>T
• NG_009366.1:g.124007C>T
• NM_001347721.2:c.586C>TMANE SELECT
• NM_001347722.2:c.586C>T
• NM_001347723.2:c.499C>T
• NM_001396.5:c.613C>T
• NM_101395.2:c.613C>T
• NM_130436.2:c.586C>T
• NM_130438.2:c.613C>T
• NP_001334650.1:p.Arg196Ter
• NP_001334651.1:p.Arg196Ter
• NP_001334652.1:p.Arg167Ter
• NP_001387.2:p.Arg205Ter
• NP_567824.1:p.Arg205Ter
• NP_569120.1:p.Arg196Ter
• NP_569122.1:p.Arg205Ter
• NC_000021.8:g.38858865C>T
• NM_001347721.2:c.586C>T
• NM_001396.3:c.613C>T
• NM_001396.4:c.613C>T
• NM_001396.5:c.613C>T
• g.38858865C>T
• p.Arg205*

This HGVS expression did not pass validation

Protein change:

R167*

Links:

dbSNP: rs724159949

NCBI 1000 Genomes Browser:

rs724159949

Molecular consequence:

• NM_001347721.2:c.586C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001347722.2:c.586C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001347723.2:c.499C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001396.5:c.613C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_101395.2:c.613C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_130436.2:c.586C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_130438.2:c.613C>T - nonsense - [Sequence Ontology: SO:0001587]