ClinVar

NM_152419.3(HGSNAT):c.1252G>C (p.Gly418Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p11.21

Genomic location:

• Chr8: 43192305 (on Assembly GRCh38)
• Chr8: 43047448 (on Assembly GRCh37)

Preferred name:

NM_152419.3(HGSNAT):c.1252G>C (p.Gly418Arg)

HGVS:

• NC_000008.11:g.43192305G>C
• NG_009552.1:g.56857G>C
• NM_001363227.2:c.1252G>C
• NM_001363228.2:c.1060G>C
• NM_001363229.2:c.388G>C
• NM_152419.3:c.1252G>CMANE SELECT
• NP_001350156.1:p.Gly418Arg
• NP_001350157.1:p.Gly354Arg
• NP_001350158.1:p.Gly130Arg
• NP_689632.2:p.Gly418Arg
• NC_000008.10:g.43047448G>C
• NM_152419.2:c.1252G>C

This HGVS expression did not pass validation

Protein change:

G130R

Links:

dbSNP: rs1447139472

NCBI 1000 Genomes Browser:

rs1447139472

Molecular consequence:

• NM_001363227.2:c.1252G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363228.2:c.1060G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363229.2:c.388G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_152419.3:c.1252G>C - missense variant - [Sequence Ontology: SO:0001583]