ClinVar

NM_022787.4(NMNAT1):c.709C>T (p.Arg237Cys)

Gene:

NMNAT1:nicotinamide nucleotide adenylyltransferase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

• Chr1: 9982570 (on Assembly GRCh38)
• Chr1: 10042628 (on Assembly GRCh37)

Preferred name:

NM_022787.4(NMNAT1):c.709C>T (p.Arg237Cys)

HGVS:

• NC_000001.11:g.9982570C>T
• NG_032954.1:g.44143C>T
• NM_001297778.1:c.709C>T
• NM_022787.4:c.709C>TMANE SELECT
• NP_001284707.1:p.Arg237Cys
• NP_073624.2:p.Arg237Cys
• NC_000001.10:g.10042628C>T
• NM_022787.3:c.709C>T

This HGVS expression did not pass validation

Protein change:

R237C

Links:

dbSNP: rs375110174

NCBI 1000 Genomes Browser:

rs375110174

Molecular consequence:

• NM_001297778.1:c.709C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_022787.4:c.709C>T - missense variant - [Sequence Ontology: SO:0001583]