ClinVar

NM_001127651.3(NCF2):c.-31+114A>G

Genes:

LOC129932084:ATAC-STARR-seq lymphoblastoid active region 2216 [Gene]
NCF2:neutrophil cytosolic factor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q25.3

Genomic location:

• Chr1: 183590726 (on Assembly GRCh38)
• Chr1: 183559861 (on Assembly GRCh37)

Preferred name:

NM_001127651.3(NCF2):c.-31+114A>G

HGVS:

• NC_000001.11:g.183590726T>C
• NG_007267.1:g.4856A>G
• NG_165124.1:g.348T>C
• NM_001127651.3:c.-31+114A>G
• NM_001410895.1:c.-31+114A>G
• LRG_88:g.4856A>G
• NC_000001.10:g.183559861T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs2333681

NCBI 1000 Genomes Browser:

rs2333681

Molecular consequence:

• NM_001127651.3:c.-31+114A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001410895.1:c.-31+114A>G - intron variant - [Sequence Ontology: SO:0001627]