ClinVar

NM_001347721.2(DYRK1A):c.760C>T (p.Arg254Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.13

Genomic location:

• Chr21: 37490297 (on Assembly GRCh38)
• Chr21: 38862599 (on Assembly GRCh37)

Preferred name:

NM_001347721.2(DYRK1A):c.760C>T (p.Arg254Ter)

HGVS:

• NC_000021.9:g.37490297C>T
• NG_009366.1:g.127741C>T
• NM_001347721.2:c.760C>TMANE SELECT
• NM_001347722.2:c.760C>T
• NM_001347723.2:c.673C>T
• NM_001396.5:c.787C>T
• NM_101395.2:c.787C>T
• NM_130436.2:c.760C>T
• NM_130438.2:c.787C>T
• NP_001334650.1:p.Arg254Ter
• NP_001334651.1:p.Arg254Ter
• NP_001334652.1:p.Arg225Ter
• NP_001387.2:p.Arg263Ter
• NP_001387.2:p.Arg263Ter
• NP_567824.1:p.Arg263Ter
• NP_569120.1:p.Arg254Ter
• NP_569122.1:p.Arg263Ter
• NC_000021.8:g.38862599C>T
• NM_001396.3:c.787C>T
• NM_001396.4:c.787C>T

This HGVS expression did not pass validation

Protein change:

R225*

Links:

dbSNP: rs886041291

NCBI 1000 Genomes Browser:

rs886041291

Molecular consequence:

• NM_001347721.2:c.760C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001347722.2:c.760C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001347723.2:c.673C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001396.5:c.787C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_101395.2:c.787C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_130436.2:c.760C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_130438.2:c.787C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1