ClinVar

NM_000512.5(GALNS):c.*296A>G

Genes:

APRT:adenine phosphoribosyltransferase [Gene - OMIM - HGNC]
GALNS:galactosamine (N-acetyl)-6-sulfatase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

• Chr16: 88814143 (on Assembly GRCh38)
• Chr16: 88880551 (on Assembly GRCh37)

Preferred name:

NM_000512.5(GALNS):c.*296A>G

HGVS:

• NC_000016.10:g.88814143T>C
• NG_008013.1:g.2792A>G
• NG_008667.1:g.47824A>G
• NM_000512.5:c.*296A>GMANE SELECT
• NM_001323543.2:c.*296A>G
• NM_001323544.2:c.*296A>G
• NC_000016.9:g.88880551T>C
• NM_000512.4:c.*296A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs79507351

NCBI 1000 Genomes Browser:

rs79507351

Molecular consequence:

• NM_000512.5:c.*296A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001323543.2:c.*296A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001323544.2:c.*296A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]