ClinVar

NM_023018.5(NADK):c.264-1916C>T

Gene:

NADK:NAD kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.33

Genomic location:

• Chr1: 1759226 (on Assembly GRCh38)
• Chr1: 1690665 (on Assembly GRCh37)

Preferred name:

NM_023018.5(NADK):c.264-1916C>T

HGVS:

• NC_000001.11:g.1759226G>A
• NM_001198993.2:c.264-1916C>T
• NM_001198994.2:c.450C>T
• NM_001353641.2:c.264-1916C>T
• NM_001353642.2:c.3-1916C>T
• NM_023018.5:c.264-1916C>TMANE SELECT
• NP_001185923.1:p.Val150=
• NC_000001.10:g.1690665G>A
• NM_001198994.1:c.450C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs373117639

NCBI 1000 Genomes Browser:

rs373117639

Molecular consequence:

• NM_001198993.2:c.264-1916C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001353641.2:c.264-1916C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001353642.2:c.3-1916C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_023018.5:c.264-1916C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001198994.2:c.450C>T - synonymous variant - [Sequence Ontology: SO:0001819]