ClinVar

NM_001032386.2(SUOX):c.968C>T (p.Ser323Leu)

Gene:

SUOX:sulfite oxidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.2

Genomic location:

• Chr12: 56004357 (on Assembly GRCh38)
• Chr12: 56398141 (on Assembly GRCh37)

Preferred name:

NM_001032386.2(SUOX):c.968C>T (p.Ser323Leu)

HGVS:

• NC_000012.12:g.56004357C>T
• NG_008136.1:g.12099C>T
• NM_000456.3:c.968C>T
• NM_001032386.2:c.968C>TMANE SELECT
• NM_001032387.2:c.968C>T
• NP_000447.2:p.Ser323Leu
• NP_001027558.1:p.Ser323Leu
• NP_001027559.1:p.Ser323Leu
• NC_000012.11:g.56398141C>T
• NM_000456.2:c.968C>T

This HGVS expression did not pass validation

Protein change:

S323L

Links:

dbSNP: rs143457531

NCBI 1000 Genomes Browser:

rs143457531

Molecular consequence:

• NM_000456.3:c.968C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001032386.2:c.968C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001032387.2:c.968C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1