ClinVar

NM_002074.5(GNB1):c.154C>T (p.Arg52Trp)

Gene:

GNB1:G protein subunit beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.33

Genomic location:

• Chr1: 1815805 (on Assembly GRCh38)
• Chr1: 1747244 (on Assembly GRCh37)

Preferred name:

NM_002074.5(GNB1):c.154C>T (p.Arg52Trp)

HGVS:

• NC_000001.11:g.1815805G>A
• NG_047052.1:g.80313C>T
• NM_001282538.2:c.-97-9267C>T
• NM_001282539.2:c.154C>T
• NM_002074.5:c.154C>TMANE SELECT
• NP_001269468.1:p.Arg52Trp
• NP_002065.1:p.Arg52Trp
• NC_000001.10:g.1747244G>A
• NM_002074.4:c.154C>T

This HGVS expression did not pass validation

Protein change:

R52W

Links:

dbSNP: rs2100858748

NCBI 1000 Genomes Browser:

rs2100858748

Molecular consequence:

• NM_001282538.2:c.-97-9267C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282539.2:c.154C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002074.5:c.154C>T - missense variant - [Sequence Ontology: SO:0001583]