ClinVar

NM_002074.5(GNB1):c.430+4C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.33

Genomic location:

• Chr1: 1804415 (on Assembly GRCh38)
• Chr1: 1735854 (on Assembly GRCh37)

Preferred name:

NM_002074.5(GNB1):c.430+4C>T

HGVS:

• NC_000001.11:g.1804415G>A
• NG_047052.1:g.91703C>T
• NM_001282538.2:c.130+4C>T
• NM_001282539.2:c.430+4C>T
• NM_002074.5:c.430+4C>TMANE SELECT
• NC_000001.10:g.1735854G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs764585029

NCBI 1000 Genomes Browser:

rs764585029

Molecular consequence:

• NM_001282538.2:c.130+4C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282539.2:c.430+4C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_002074.5:c.430+4C>T - intron variant - [Sequence Ontology: SO:0001627]