ClinVar

NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys)

Gene:

SGSH:N-sulfoglucosamine sulfohydrolase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 80210832 (on Assembly GRCh38)
• Chr17: 78184631 (on Assembly GRCh37)

Preferred name:

NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys)

Other names:

p.Arg377Cys

HGVS:

• NC_000017.11:g.80210832G>A
• NG_008229.1:g.14569C>T
• NG_032778.1:g.45841G>A
• NM_000199.5:c.1129C>TMANE SELECT
• NM_001352921.3:c.*216C>T
• NM_001352922.2:c.*179C>T
• NP_000190.1:p.Arg377Cys
• LRG_1330:g.45841G>A
• NC_000017.10:g.78184631G>A
• NM_000199.3:c.1129C>T
• NR_148201.2:n.1043C>T

This HGVS expression did not pass validation

Protein change:

R377C

Links:

dbSNP: rs772311757

NCBI 1000 Genomes Browser:

rs772311757

Molecular consequence:

• NM_001352921.3:c.*216C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001352922.2:c.*179C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000199.5:c.1129C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_148201.2:n.1043C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

Unknown function

Observations:

1