ClinVar

NM_000512.5(GALNS):c.245C>T (p.Ser82Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

• Chr16: 88841971 (on Assembly GRCh38)
• Chr16: 88908379 (on Assembly GRCh37)

Preferred name:

NM_000512.5(GALNS):c.245C>T (p.Ser82Leu)

HGVS:

• NC_000016.10:g.88841971G>A
• NG_008667.1:g.19996C>T
• NM_000512.5:c.245C>TMANE SELECT
• NM_001323543.2:c.-311C>T
• NM_001323544.2:c.263C>T
• NP_000503.1:p.Ser82Leu
• NP_000503.1:p.Ser82Leu
• NP_000503.1:p.Ser82Leu
• NP_001310473.1:p.Ser88Leu
• NC_000016.9:g.88908379G>A
• NM_000512.4:c.245C>T
• NM_001323544.2:c.263C>T

This HGVS expression did not pass validation

Protein change:

S82L

Links:

dbSNP: rs371429653

NCBI 1000 Genomes Browser:

rs371429653

Molecular consequence:

• NM_001323543.2:c.-311C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000512.5:c.245C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323544.2:c.263C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2