ClinVar

NM_000433.4(NCF2):c.1360C>T (p.Pro454Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q25.3

Genomic location:

• Chr1: 183560204 (on Assembly GRCh38)
• Chr1: 183529339 (on Assembly GRCh37)

Preferred name:

NM_000433.4(NCF2):c.1360C>T (p.Pro454Ser)

HGVS:

• NC_000001.11:g.183560204G>A
• NG_007267.1:g.35378C>T
• NM_000433.4:c.1360C>TMANE SELECT
• NM_001127651.3:c.1360C>T
• NM_001190789.2:c.1117C>T
• NM_001190794.2:c.1225C>T
• NP_000424.2:p.Pro454Ser
• NP_000424.2:p.Pro454Ser
• NP_001121123.1:p.Pro454Ser
• NP_001177718.1:p.Pro373Ser
• NP_001177723.1:p.Pro409Ser
• LRG_88t1:c.1360C>T
• LRG_88:g.35378C>T
• LRG_88p1:p.Pro454Ser
• NC_000001.10:g.183529339G>A
• NM_000433.3:c.1360C>T

This HGVS expression did not pass validation

Protein change:

P373S

Links:

dbSNP: rs55761650

NCBI 1000 Genomes Browser:

rs55761650

Molecular consequence:

• NM_000433.4:c.1360C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127651.3:c.1360C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001190789.2:c.1117C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001190794.2:c.1225C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

5