ClinVar

NM_000155.4(GALT):c.292G>A (p.Asp98Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.3

Genomic location:

• Chr9: 34647531 (on Assembly GRCh38)
• Chr9: 34647528 (on Assembly GRCh37)

Preferred name:

NM_000155.4(GALT):c.292G>A (p.Asp98Asn)

HGVS:

• NC_000009.12:g.34647531G>A
• NG_009029.2:g.5943G>A
• NG_028966.1:g.347G>A
• NM_000155.4:c.292G>AMANE SELECT
• NM_001258332.2:c.50+273G>A
• NP_000146.2:p.Asp98Asn
• NC_000009.11:g.34647528G>A
• NM_000155.2:c.292G>A
• NM_000155.3:c.292G>A
• P07902:p.Asp98Asn

This HGVS expression did not pass validation

Links:

UniProtKB: P07902#VAR_002560; dbSNP: rs111033670

NCBI 1000 Genomes Browser:

rs111033670

Molecular consequence:

• NM_001258332.2:c.50+273G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000155.4:c.292G>A - missense variant - [Sequence Ontology: SO:0001583]