ClinVar

NM_000155.4(GALT):c.610C>T (p.Arg204Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.3

Genomic location:

• Chr9: 34648379 (on Assembly GRCh38)
• Chr9: 34648376 (on Assembly GRCh37)

Preferred name:

NM_000155.4(GALT):c.610C>T (p.Arg204Ter)

HGVS:

• NC_000009.12:g.34648379C>T
• NG_009029.2:g.6791C>T
• NG_028966.1:g.1195C>T
• NM_000155.4:c.610C>TMANE SELECT
• NM_001258332.2:c.283C>T
• NP_000146.2:p.Arg204Ter
• NP_001245261.1:p.Arg95Ter
• NC_000009.11:g.34648376C>T
• NG_009029.1:g.6742C>T
• NM_000155.1:c.610C>T
• NM_000155.3:c.610C>T
• NP_000146.2:p.Arg204*
• p.Arg204X

This HGVS expression did not pass validation

Protein change:

R204*

Links:

dbSNP: rs111033737

NCBI 1000 Genomes Browser:

rs111033737

Molecular consequence:

• NM_000155.4:c.610C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001258332.2:c.283C>T - nonsense - [Sequence Ontology: SO:0001587]