ClinVar

NM_023018.5(NADK):c.1017C>T (p.Asn339=)

Gene:

NADK:NAD kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.33

Genomic location:

• Chr1: 1754135 (on Assembly GRCh38)
• Chr1: 1685574 (on Assembly GRCh37)

Preferred name:

NM_023018.5(NADK):c.1017C>T (p.Asn339=)

HGVS:

• NC_000001.11:g.1754135G>A
• NM_001198993.2:c.1017C>T
• NM_001198994.2:c.1452C>T
• NM_001198995.1:c.921C>T
• NM_001353641.2:c.1017C>T
• NM_001353642.2:c.756C>T
• NM_023018.5:c.1017C>TMANE SELECT
• NP_001185922.1:p.Asn339=
• NP_001185923.1:p.Asn484=
• NP_001185924.1:p.Asn307=
• NP_001340570.1:p.Asn339=
• NP_001340571.1:p.Asn252=
• NP_075394.3:p.Asn339=
• NC_000001.10:g.1685574G>A
• NM_001198994.1:c.1452C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs201887703

NCBI 1000 Genomes Browser:

rs201887703

Molecular consequence:

• NM_001198993.2:c.1017C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001198994.2:c.1452C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001198995.1:c.921C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353641.2:c.1017C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353642.2:c.756C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_023018.5:c.1017C>T - synonymous variant - [Sequence Ontology: SO:0001819]