ClinVar

NM_000155.4(GALT):c.640G>A (p.Gly214Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.3

Genomic location:

• Chr9: 34648409 (on Assembly GRCh38)
• Chr9: 34648406 (on Assembly GRCh37)

Preferred name:

NM_000155.4(GALT):c.640G>A (p.Gly214Arg)

HGVS:

• NC_000009.12:g.34648409G>A
• NG_009029.2:g.6821G>A
• NG_028966.1:g.1225G>A
• NM_000155.4:c.640G>AMANE SELECT
• NM_001258332.2:c.313G>A
• NP_000146.2:p.Gly214Arg
• NP_001245261.1:p.Gly105Arg
• NP_001245261.1:p.Gly105Arg
• NC_000009.11:g.34648406G>A
• NM_000155.2:c.640G>A
• NM_001258332.1:c.313G>A

This HGVS expression did not pass validation

Protein change:

G105R

Links:

dbSNP: rs1413579895

NCBI 1000 Genomes Browser:

rs1413579895

Molecular consequence:

• NM_000155.4:c.640G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258332.2:c.313G>A - missense variant - [Sequence Ontology: SO:0001583]