ClinVar

NM_000433.4(NCF2):c.1256A>T (p.Asn419Ile)

Gene:

NCF2:neutrophil cytosolic factor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q25.3

Genomic location:

• Chr1: 183563229 (on Assembly GRCh38)
• Chr1: 183532364 (on Assembly GRCh37)

Preferred name:

NM_000433.4(NCF2):c.1256A>T (p.Asn419Ile)

HGVS:

• NC_000001.11:g.183563229T>A
• NG_007267.1:g.32353A>T
• NM_000433.4:c.1256A>TMANE SELECT
• NM_001127651.3:c.1256A>T
• NM_001190789.2:c.1013A>T
• NM_001190794.2:c.1121A>T
• NP_000424.2:p.Asn419Ile
• NP_000424.2:p.Asn419Ile
• NP_001121123.1:p.Asn419Ile
• NP_001177718.1:p.Asn338Ile
• NP_001177723.1:p.Asn374Ile
• LRG_88t1:c.1256A>T
• LRG_88:g.32353A>T
• LRG_88p1:p.Asn419Ile
• NC_000001.10:g.183532364T>A
• NM_000433.3:c.1256A>T
• P19878:p.Asn419Ile

This HGVS expression did not pass validation

Protein change:

N338I

Links:

UniProtKB: P19878#VAR_052621; dbSNP: rs35012521

NCBI 1000 Genomes Browser:

rs35012521

Molecular consequence:

• NM_000433.4:c.1256A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127651.3:c.1256A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001190789.2:c.1013A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001190794.2:c.1121A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1