ClinVar

NM_000155.4(GALT):c.754C>A (p.Gln252Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.3

Genomic location:

• Chr9: 34648828 (on Assembly GRCh38)
• Chr9: 34648825 (on Assembly GRCh37)

Preferred name:

NM_000155.4(GALT):c.754C>A (p.Gln252Lys)

HGVS:

• NC_000009.12:g.34648828C>A
• NG_009029.2:g.7240C>A
• NG_028966.1:g.1644C>A
• NM_000155.4:c.754C>AMANE SELECT
• NM_001258332.2:c.427C>A
• NP_000146.2:p.Gln252Lys
• NP_001245261.1:p.Gln143Lys
• NC_000009.11:g.34648825C>A
• NM_000155.2:c.754C>A

This HGVS expression did not pass validation

Protein change:

Q143K

Links:

dbSNP: rs1564101859

NCBI 1000 Genomes Browser:

rs1564101859

Molecular consequence:

• NM_000155.4:c.754C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258332.2:c.427C>A - missense variant - [Sequence Ontology: SO:0001583]