ClinVar

NM_015148.4(PASK):c.3533+1G>A

Gene:

PASK:PAS domain containing serine/threonine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.3

Genomic location:

• Chr2: 241112239 (on Assembly GRCh38)
• Chr2: 242051654 (on Assembly GRCh37)

Preferred name:

NM_015148.4(PASK):c.3533+1G>A

HGVS:

• NC_000002.12:g.241112239C>T
• NG_052850.1:g.43109G>A
• NM_001252119.2:c.3554+1G>A
• NM_001252120.2:c.3533+1G>A
• NM_001252122.2:c.3428+1G>A
• NM_015148.4:c.3533+1G>AMANE SELECT
• NC_000002.11:g.242051654C>T
• NM_001252119.1:c.3554+1G>A
• NM_001252120.1:c.3533+1G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs140030739

NCBI 1000 Genomes Browser:

rs140030739

Molecular consequence:

• NM_001252119.2:c.3554+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001252120.2:c.3533+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001252122.2:c.3428+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_015148.4:c.3533+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]