ClinVar

NM_152419.3(HGSNAT):c.1796T>C (p.Leu599Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p11.21

Genomic location:

• Chr8: 43199457 (on Assembly GRCh38)
• Chr8: 43054600 (on Assembly GRCh37)

Preferred name:

NM_152419.3(HGSNAT):c.1796T>C (p.Leu599Pro)

HGVS:

• NC_000008.11:g.43199457T>C
• NG_009552.1:g.64009T>C
• NM_001363227.2:c.1883T>C
• NM_001363228.2:c.1604T>C
• NM_001363229.2:c.932T>C
• NM_152419.3:c.1796T>CMANE SELECT
• NP_001350156.1:p.Leu628Pro
• NP_001350157.1:p.Leu535Pro
• NP_001350158.1:p.Leu311Pro
• NP_689632.2:p.Leu599Pro
• NC_000008.10:g.43054600T>C

This HGVS expression did not pass validation

Protein change:

L311P

Links:

dbSNP: rs928930218

NCBI 1000 Genomes Browser:

rs928930218

Molecular consequence:

• NM_001363227.2:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363228.2:c.1604T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363229.2:c.932T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_152419.3:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]