ClinVar

NM_001347721.2(DYRK1A):c.545_548del (p.Lys182fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

21q22.13

Genomic location:

• Chr21: 37486520 - 37486523 (on Assembly GRCh38)
• Chr21: 38858822 - 38858825 (on Assembly GRCh37)

Preferred name:

NM_001347721.2(DYRK1A):c.545_548del (p.Lys182fs)

HGVS:

• NC_000021.9:g.37486522_37486525del
• NG_009366.1:g.123966_123969del
• NM_001347721.2:c.545_548delMANE SELECT
• NM_001347722.2:c.545_548del
• NM_001347723.2:c.458_461del
• NM_001396.5:c.572_575del
• NM_101395.2:c.572_575del
• NM_130436.2:c.545_548del
• NM_130438.2:c.572_575del
• NP_001334650.1:p.Lys182fs
• NP_001334651.1:p.Lys182fs
• NP_001334652.1:p.Lys153fs
• NP_001387.2:p.Lys191fs
• NP_567824.1:p.Lys191fs
• NP_569120.1:p.Lys182fs
• NP_569122.1:p.Lys191fs
• NC_000021.8:g.38858822_38858825del
• NC_000021.8:g.38858824_38858827del
• NM_001396.3:c.572_575del
• NM_001396.3:c.572_575delAGAA

This HGVS expression did not pass validation

Protein change:

K153fs

Links:

dbSNP: rs1064796367

NCBI 1000 Genomes Browser:

rs1064796367

Molecular consequence:

• NM_001347721.2:c.545_548del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001347722.2:c.545_548del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001347723.2:c.458_461del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001396.5:c.572_575del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_101395.2:c.572_575del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_130436.2:c.545_548del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_130438.2:c.572_575del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

1