ClinVar

NM_000155.4(GALT):c.691C>T (p.Arg231Cys)

Gene:

GALT:galactose-1-phosphate uridylyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.3

Genomic location:

• Chr9: 34648765 (on Assembly GRCh38)
• Chr9: 34648762 (on Assembly GRCh37)

Preferred name:

NM_000155.4(GALT):c.691C>T (p.Arg231Cys)

Other names:

p.R231C:CGT>TGT

HGVS:

• NC_000009.12:g.34648765C>T
• NG_009029.2:g.7177C>T
• NG_028966.1:g.1581C>T
• NM_000155.4:c.691C>TMANE SELECT
• NM_001258332.2:c.364C>T
• NP_000146.2:p.Arg231Cys
• NP_001245261.1:p.Arg122Cys
• NC_000009.11:g.34648762C>T
• NM_000155.2:c.691C>T
• NM_000155.3:c.691C>T
• NM_001258332.2:c.364C>T
• P07902:p.Arg231Cys

This HGVS expression did not pass validation

Protein change:

R122C

Links:

UniProtKB: P07902#VAR_072797; dbSNP: rs111033749

NCBI 1000 Genomes Browser:

rs111033749

Molecular consequence:

• NM_000155.4:c.691C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258332.2:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]