ClinVar

NM_000155.4(GALT):c.277T>A (p.Phe93Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.3

Genomic location:

• Chr9: 34647516 (on Assembly GRCh38)
• Chr9: 34647513 (on Assembly GRCh37)

Preferred name:

NM_000155.4(GALT):c.277T>A (p.Phe93Ile)

HGVS:

• NC_000009.12:g.34647516T>A
• NG_009029.2:g.5928T>A
• NG_028966.1:g.332T>A
• NM_000155.4:c.277T>AMANE SELECT
• NM_001258332.2:c.50+258T>A
• NP_000146.2:p.Phe93Ile
• NC_000009.11:g.34647513T>A

This HGVS expression did not pass validation

Protein change:

F93I

Links:

dbSNP: rs886042059

NCBI 1000 Genomes Browser:

rs886042059

Molecular consequence:

• NM_001258332.2:c.50+258T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000155.4:c.277T>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1