ClinVar

NM_000155.4(GALT):c.652C>T (p.Leu218=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.3

Genomic location:

• Chr9: 34648421 (on Assembly GRCh38)
• Chr9: 34648418 (on Assembly GRCh37)

Preferred name:

NM_000155.4(GALT):c.652C>T (p.Leu218=)

Other names:

L218L

HGVS:

• NC_000009.12:g.34648421C>T
• NG_009029.2:g.6833C>T
• NG_028966.1:g.1237C>T
• NM_000155.4:c.652C>TMANE SELECT
• NM_001258332.2:c.325C>T
• NP_000146.2:p.Leu218=
• NP_001245261.1:p.Leu109=
• NP_001245261.1:p.Leu109=
• NC_000009.11:g.34648418C>T
• NM_000155.1:c.652C>T
• NM_000155.2:c.652C>T
• NM_000155.3:c.652C>T
• NM_001258332.1:c.325C>T
• NP_000146.2:p.(=)
• p.Leu109Leu

This HGVS expression did not pass validation

Protein change:

LEU218LEU

Links:

OMIM: 606999.0012; dbSNP: rs2070075

NCBI 1000 Genomes Browser:

rs2070075

Molecular consequence:

• NM_000155.4:c.652C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001258332.2:c.325C>T - synonymous variant - [Sequence Ontology: SO:0001819]