ClinVar

NM_000512.5(GALNS):c.240G>A (p.Ser80=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

• Chr16: 88842710 (on Assembly GRCh38)
• Chr16: 88909118 (on Assembly GRCh37)

Preferred name:

NM_000512.5(GALNS):c.240G>A (p.Ser80=)

HGVS:

• NC_000016.10:g.88842710C>T
• NG_008667.1:g.19257G>A
• NM_000512.5:c.240G>AMANE SELECT
• NM_001323543.2:c.-311-739G>A
• NM_001323544.2:c.258G>A
• NP_000503.1:p.Ser80=
• NP_001310473.1:p.Ser86=
• NC_000016.9:g.88909118C>T
• NM_000512.4:c.240G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs11865929

NCBI 1000 Genomes Browser:

rs11865929

Molecular consequence:

• NM_001323543.2:c.-311-739G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000512.5:c.240G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001323544.2:c.258G>A - synonymous variant - [Sequence Ontology: SO:0001819]