ClinVar

NM_000155.4(GALT):c.328+33G>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.3

Genomic location:

• Chr9: 34647600 (on Assembly GRCh38)
• Chr9: 34647597 (on Assembly GRCh37)

Preferred name:

NM_000155.4(GALT):c.328+33G>C

HGVS:

• NC_000009.12:g.34647600G>C
• NG_009029.2:g.6012G>C
• NG_028966.1:g.416G>C
• NM_000155.4:c.328+33G>CMANE SELECT
• NM_001258332.2:c.51-232G>C
• NC_000009.11:g.34647597G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs767197888

NCBI 1000 Genomes Browser:

rs767197888

Molecular consequence:

• NM_000155.4:c.328+33G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001258332.2:c.51-232G>C - intron variant - [Sequence Ontology: SO:0001627]

Observations:

2