ClinVar

NM_001032386.2(SUOX):c.1281G>C (p.Ser427=)

Gene:

SUOX:sulfite oxidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.2

Genomic location:

• Chr12: 56004670 (on Assembly GRCh38)
• Chr12: 56398454 (on Assembly GRCh37)

Preferred name:

NM_001032386.2(SUOX):c.1281G>C (p.Ser427=)

HGVS:

• NC_000012.12:g.56004670G>C
• NG_008136.1:g.12412G>C
• NM_000456.3:c.1281G>C
• NM_001032386.2:c.1281G>CMANE SELECT
• NM_001032387.2:c.1281G>C
• NP_000447.2:p.Ser427=
• NP_001027558.1:p.Ser427=
• NP_001027559.1:p.Ser427=
• NC_000012.11:g.56398454G>C
• NM_000456.2:c.1281G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs773115

NCBI 1000 Genomes Browser:

rs773115

Molecular consequence:

• NM_000456.3:c.1281G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001032386.2:c.1281G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001032387.2:c.1281G>C - synonymous variant - [Sequence Ontology: SO:0001819]