ClinVar

NM_001162383.2(ARHGEF2):c.917G>T (p.Cys306Phe)

Gene:

ARHGEF2:Rho/Rac guanine nucleotide exchange factor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 155962991 (on Assembly GRCh38)
• Chr1: 155932782 (on Assembly GRCh37)

Preferred name:

NM_001162383.2(ARHGEF2):c.917G>T (p.Cys306Phe)

HGVS:

• NC_000001.11:g.155962991C>A
• NM_001162383.2:c.917G>TMANE SELECT
• NM_001162384.2:c.914G>T
• NM_001350110.2:c.836G>T
• NM_001350111.2:c.836G>T
• NM_001350112.2:c.863G>T
• NM_004723.4:c.833G>T
• NP_001155855.1:p.Cys306Phe
• NP_001155856.1:p.Cys305Phe
• NP_001337039.1:p.Cys279Phe
• NP_001337040.1:p.Cys279Phe
• NP_001337041.1:p.Cys288Phe
• NP_004714.2:p.Cys278Phe
• NC_000001.10:g.155932782C>A
• NM_001162383.1:c.917G>T

This HGVS expression did not pass validation

Protein change:

C278F

Links:

dbSNP: rs1678274044

NCBI 1000 Genomes Browser:

rs1678274044

Molecular consequence:

• NM_001162383.2:c.917G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001162384.2:c.914G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350110.2:c.836G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350111.2:c.836G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350112.2:c.863G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004723.4:c.833G>T - missense variant - [Sequence Ontology: SO:0001583]