ClinVar

NM_000155.4(GALT):c.443G>A (p.Arg148Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.3

Genomic location:

• Chr9: 34647897 (on Assembly GRCh38)
• Chr9: 34647894 (on Assembly GRCh37)

Preferred name:

NM_000155.4(GALT):c.443G>A (p.Arg148Gln)

HGVS:

• NC_000009.12:g.34647897G>A
• NG_009029.2:g.6309G>A
• NG_028966.1:g.713G>A
• NM_000155.4:c.443G>AMANE SELECT
• NM_001258332.2:c.116G>A
• NP_000146.2:p.Arg148Gln
• NP_001245261.1:p.Arg39Gln
• NC_000009.11:g.34647894G>A
• NM_000155.2:c.443G>A
• NM_000155.3:c.443G>A
• P07902:p.Arg148Gln

This HGVS expression did not pass validation

Protein change:

R39Q

Links:

UniProtKB: P07902#VAR_002578; dbSNP: rs111033694

NCBI 1000 Genomes Browser:

rs111033694

Molecular consequence:

• NM_000155.4:c.443G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258332.2:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]