ClinVar

NM_152419.3(HGSNAT):c.715C>T (p.Arg239Cys)

Gene:

HGSNAT:heparan-alpha-glucosaminide N-acetyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p11.21

Genomic location:

• Chr8: 43170666 (on Assembly GRCh38)
• Chr8: 43025809 (on Assembly GRCh37)

Preferred name:

NM_152419.3(HGSNAT):c.715C>T (p.Arg239Cys)

HGVS:

• NC_000008.11:g.43170666C>T
• NG_009552.1:g.35218C>T
• NM_001363227.2:c.715C>T
• NM_001363228.2:c.715C>T
• NM_001363229.2:c.-119C>T
• NM_152419.3:c.715C>TMANE SELECT
• NP_001350156.1:p.Arg239Cys
• NP_001350157.1:p.Arg239Cys
• NP_689632.2:p.Arg239Cys
• NC_000008.10:g.43025809C>T
• NC_000008.10:g.43025809C>T
• NM_152419.2:c.715C>T

This HGVS expression did not pass validation

Protein change:

R239C

Links:

dbSNP: rs369292480

NCBI 1000 Genomes Browser:

rs369292480

Molecular consequence:

• NM_001363229.2:c.-119C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001363227.2:c.715C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363228.2:c.715C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_152419.3:c.715C>T - missense variant - [Sequence Ontology: SO:0001583]