ClinVar

NM_152419.3(HGSNAT):c.1411G>C (p.Glu471Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p11.21

Genomic location:

• Chr8: 43193790 (on Assembly GRCh38)
• Chr8: 43048933 (on Assembly GRCh37)

Preferred name:

NM_152419.3(HGSNAT):c.1411G>C (p.Glu471Gln)

HGVS:

• NC_000008.11:g.43193790G>C
• NG_009552.1:g.58342G>C
• NM_001363227.2:c.1411G>C
• NM_001363228.2:c.1219G>C
• NM_001363229.2:c.547G>C
• NM_152419.3:c.1411G>CMANE SELECT
• NP_001350156.1:p.Glu471Gln
• NP_001350157.1:p.Glu407Gln
• NP_001350158.1:p.Glu183Gln
• NP_689632.2:p.Glu471Gln
• NC_000008.10:g.43048933G>C

This HGVS expression did not pass validation

Protein change:

E183Q

Links:

dbSNP: rs753355844

NCBI 1000 Genomes Browser:

rs753355844

Molecular consequence:

• NM_001363227.2:c.1411G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363228.2:c.1219G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363229.2:c.547G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_152419.3:c.1411G>C - missense variant - [Sequence Ontology: SO:0001583]