ClinVar

NM_152419.3(HGSNAT):c.743G>C (p.Gly248Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p11.21

Genomic location:

• Chr8: 43170694 (on Assembly GRCh38)
• Chr8: 43025837 (on Assembly GRCh37)

Preferred name:

NM_152419.3(HGSNAT):c.743G>C (p.Gly248Ala)

HGVS:

• NC_000008.11:g.43170694G>C
• NG_009552.1:g.35246G>C
• NM_001363227.2:c.743G>C
• NM_001363228.2:c.743G>C
• NM_001363229.2:c.-91G>C
• NM_152419.3:c.743G>CMANE SELECT
• NP_001350156.1:p.Gly248Ala
• NP_001350157.1:p.Gly248Ala
• NP_689632.2:p.Gly248Ala
• NC_000008.10:g.43025837G>C
• NC_000008.10:g.43025837G>C
• NM_152419.2:c.743G>C

This HGVS expression did not pass validation

Protein change:

G248A

Links:

dbSNP: rs1324238938

NCBI 1000 Genomes Browser:

rs1324238938

Molecular consequence:

• NM_001363229.2:c.-91G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001363227.2:c.743G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363228.2:c.743G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_152419.3:c.743G>C - missense variant - [Sequence Ontology: SO:0001583]