ClinVar

NM_002075.4(GNB3):c.825C>T (p.Ser275=)

Genes:

GNB3:G protein subunit beta 3 [Gene - OMIM - HGNC]
CDCA3:cell division cycle associated 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

• Chr12: 6845711 (on Assembly GRCh38)
• Chr12: 6954875 (on Assembly GRCh37)

Preferred name:

NM_002075.4(GNB3):c.825C>T (p.Ser275=)

HGVS:

• NC_000012.12:g.6845711C>T
• NG_009100.2:g.10501C>T
• NM_001297571.2:c.822C>T
• NM_001297603.3:c.*1077G>A
• NM_002075.4:c.825C>TMANE SELECT
• NP_001284500.1:p.Ser274=
• NP_002066.1:p.Ser275=
• NC_000012.11:g.6954875C>T
• NM_002075.3:c.825C>T

This HGVS expression did not pass validation

Nucleotide change:

825C-T

Links:

PharmGKB Clinical Annotation: 655385125; OMIM: 139130.0001; dbSNP: rs5443

NCBI 1000 Genomes Browser:

rs5443

Molecular consequence:

• NM_001297603.3:c.*1077G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001297571.2:c.822C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002075.4:c.825C>T - synonymous variant - [Sequence Ontology: SO:0001819]