ClinVar

NM_001347721.2(DYRK1A):c.1001A>T (p.Asp334Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.13

Genomic location:

• Chr21: 37493093 (on Assembly GRCh38)
• Chr21: 38865395 (on Assembly GRCh37)

Preferred name:

NM_001347721.2(DYRK1A):c.1001A>T (p.Asp334Val)

HGVS:

• NC_000021.9:g.37493093A>T
• NG_009366.1:g.130537A>T
• NM_001347721.2:c.1001A>TMANE SELECT
• NM_001347722.2:c.1001A>T
• NM_001347723.2:c.914A>T
• NM_001396.5:c.1028A>T
• NM_101395.2:c.1028A>T
• NM_130436.2:c.1001A>T
• NM_130438.2:c.1028A>T
• NP_001334650.1:p.Asp334Val
• NP_001334651.1:p.Asp334Val
• NP_001334652.1:p.Asp305Val
• NP_001387.2:p.Asp343Val
• NP_567824.1:p.Asp343Val
• NP_569120.1:p.Asp334Val
• NP_569122.1:p.Asp343Val
• NC_000021.8:g.38865395A>T
• NM_001396.3:c.1028A>T

This HGVS expression did not pass validation

Protein change:

D305V

Links:

dbSNP: rs1601280230

NCBI 1000 Genomes Browser:

rs1601280230

Molecular consequence:

• NM_001347721.2:c.1001A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347722.2:c.1001A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347723.2:c.914A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001396.5:c.1028A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_101395.2:c.1028A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_130436.2:c.1001A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_130438.2:c.1028A>T - missense variant - [Sequence Ontology: SO:0001583]