ClinVar

NM_000760.4(CSF3R):c.2422G>A (p.Glu808Lys)

Gene:

CSF3R:colony stimulating factor 3 receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.3

Genomic location:

• Chr1: 36466446 (on Assembly GRCh38)
• Chr1: 36932047 (on Assembly GRCh37)

Preferred name:

NM_000760.4(CSF3R):c.2422G>A (p.Glu808Lys)

HGVS:

• NC_000001.11:g.36466446C>T
• NG_016270.1:g.21463G>A
• NM_000760.4:c.2422G>AMANE SELECT
• NM_156039.3:c.2503G>A
• NM_172313.3:c.2247+175G>A
• NP_000751.1:p.Glu808Lys
• NP_724781.1:p.Glu835Lys
• LRG_144t1:c.2503G>A
• LRG_144t2:c.2422G>A
• LRG_144:g.21463G>A
• LRG_144p1:p.Glu835Lys
• LRG_144p2:p.Glu808Lys
• NC_000001.10:g.36932047C>T
• NM_000760.3:c.2422G>A

This HGVS expression did not pass validation

Protein change:

E808K

Links:

dbSNP: rs146617729

NCBI 1000 Genomes Browser:

rs146617729

Molecular consequence:

• NM_172313.3:c.2247+175G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000760.4:c.2422G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_156039.3:c.2503G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2