ClinVar

NM_001347721.2(DYRK1A):c.-76-9690T>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.13

Genomic location:

• Chr21: 37410609 (on Assembly GRCh38)
• Chr21: 38782911 (on Assembly GRCh37)

Preferred name:

NM_001347721.2(DYRK1A):c.-76-9690T>C

HGVS:

• NC_000021.9:g.37410609T>C
• NG_009366.1:g.48053T>C
• NM_001347721.2:c.-76-9690T>CMANE SELECT
• NM_001347722.2:c.-76-9690T>C
• NM_001347723.2:c.-78+42981T>C
• NM_001396.5:c.-76-9690T>C
• NM_101395.2:c.-138T>C
• NC_000021.8:g.38782911T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs9981736

NCBI 1000 Genomes Browser:

rs9981736

Molecular consequence:

• NM_101395.2:c.-138T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001347721.2:c.-76-9690T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001347722.2:c.-76-9690T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001347723.2:c.-78+42981T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001396.5:c.-76-9690T>C - intron variant - [Sequence Ontology: SO:0001627]