ClinVar

NM_000155.4(GALT):c.602G>A (p.Arg201His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.3

Genomic location:

• Chr9: 34648371 (on Assembly GRCh38)
• Chr9: 34648368 (on Assembly GRCh37)

Preferred name:

NM_000155.4(GALT):c.602G>A (p.Arg201His)

HGVS:

• NC_000009.12:g.34648371G>A
• NG_009029.2:g.6783G>A
• NG_028966.1:g.1187G>A
• NM_000155.4:c.602G>AMANE SELECT
• NM_001258332.2:c.275G>A
• NP_000146.2:p.Arg201His
• NP_001245261.1:p.Arg92His
• NC_000009.11:g.34648368G>A
• NM_000155.3:c.602G>A
• P07902:p.Arg201His

This HGVS expression did not pass validation

Protein change:

R92H

Links:

UniProtKB: P07902#VAR_002594; dbSNP: rs111033735

NCBI 1000 Genomes Browser:

rs111033735

Molecular consequence:

• NM_000155.4:c.602G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258332.2:c.275G>A - missense variant - [Sequence Ontology: SO:0001583]