ClinVar

NM_000263.4(NAGLU):c.196A>T (p.Ser66Cys)

Genes:

LOC130060903:ATAC-STARR-seq lymphoblastoid silent region 8533 [Gene]
NAGLU:N-acetyl-alpha-glucosaminidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

• Chr17: 42536468 (on Assembly GRCh38)
• Chr17: 40688486 (on Assembly GRCh37)

Preferred name:

NM_000263.4(NAGLU):c.196A>T (p.Ser66Cys)

HGVS:

• NC_000017.11:g.42536468A>T
• NG_011552.1:g.5536A>T
• NG_136590.1:g.22A>T
• NG_196153.1:g.425A>T
• NM_000263.4:c.196A>TMANE SELECT
• NP_000254.2:p.Ser66Cys
• NC_000017.10:g.40688486A>T

This HGVS expression did not pass validation

Protein change:

S66C

Molecular consequence:

• NM_000263.4:c.196A>T - missense variant - [Sequence Ontology: SO:0001583]