ClinVar

NM_000433.4(NCF2):c.113G>A (p.Arg38Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q25.3

Genomic location:

• Chr1: 183590217 (on Assembly GRCh38)
• Chr1: 183559352 (on Assembly GRCh37)

Preferred name:

NM_000433.4(NCF2):c.113G>A (p.Arg38Gln)

HGVS:

• NC_000001.11:g.183590217C>T
• NG_007267.1:g.5365G>A
• NM_000433.4:c.113G>AMANE SELECT
• NM_001127651.3:c.113G>A
• NM_001190789.2:c.113G>A
• NM_001190794.2:c.113G>A
• NP_000424.2:p.Arg38Gln
• NP_000424.2:p.Arg38Gln
• NP_001121123.1:p.Arg38Gln
• NP_001177718.1:p.Arg38Gln
• NP_001177723.1:p.Arg38Gln
• LRG_88t1:c.113G>A
• LRG_88:g.5365G>A
• LRG_88p1:p.Arg38Gln
• NC_000001.10:g.183559352C>T
• NM_000433.3:c.113G>A

This HGVS expression did not pass validation

Protein change:

R38Q

Links:

dbSNP: rs147415774

NCBI 1000 Genomes Browser:

rs147415774

Molecular consequence:

• NM_000433.4:c.113G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127651.3:c.113G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001190789.2:c.113G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001190794.2:c.113G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

4