ClinVar

NM_001347721.2(DYRK1A):c.804G>A (p.Ala268=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.13

Genomic location:

• Chr21: 37490341 (on Assembly GRCh38)
• Chr21: 38862643 (on Assembly GRCh37)

Preferred name:

NM_001347721.2(DYRK1A):c.804G>A (p.Ala268=)

HGVS:

• NC_000021.9:g.37490341G>A
• NG_009366.1:g.127785G>A
• NM_001347721.2:c.804G>AMANE SELECT
• NM_001347722.2:c.804G>A
• NM_001347723.2:c.717G>A
• NM_001396.5:c.831G>A
• NM_101395.2:c.831G>A
• NM_130436.2:c.804G>A
• NM_130438.2:c.831G>A
• NP_001334650.1:p.Ala268=
• NP_001334651.1:p.Ala268=
• NP_001334652.1:p.Ala239=
• NP_001387.2:p.Ala277=
• NP_567824.1:p.Ala277=
• NP_569120.1:p.Ala268=
• NP_569122.1:p.Ala277=
• NC_000021.8:g.38862643G>A
• NM_001396.3:c.831G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs138086853

NCBI 1000 Genomes Browser:

rs138086853

Molecular consequence:

• NM_001347721.2:c.804G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347722.2:c.804G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347723.2:c.717G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001396.5:c.831G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_101395.2:c.831G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_130436.2:c.804G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_130438.2:c.831G>A - synonymous variant - [Sequence Ontology: SO:0001819]