ClinVar

NM_000155.4(GALT):c.172G>A (p.Glu58Lys)

Genes:

LOC130001683:ATAC-STARR-seq lymphoblastoid active region 28314 [Gene]
GALT:galactose-1-phosphate uridylyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.3

Genomic location:

• Chr9: 34647178 (on Assembly GRCh38)
• Chr9: 34647175 (on Assembly GRCh37)

Preferred name:

NM_000155.4(GALT):c.172G>A (p.Glu58Lys)

HGVS:

• NC_000009.12:g.34647178G>A
• NG_009029.2:g.5590G>A
• NM_000155.4:c.172G>AMANE SELECT
• NM_001258332.2:c.-31G>A
• NP_000146.2:p.Glu58Lys
• NC_000009.11:g.34647175G>A
• NM_000155.2:c.172G>A

This HGVS expression did not pass validation

Protein change:

E58K

Links:

dbSNP: rs1554709147

NCBI 1000 Genomes Browser:

rs1554709147

Molecular consequence:

• NM_001258332.2:c.-31G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000155.4:c.172G>A - missense variant - [Sequence Ontology: SO:0001583]