HGSNAT Chromosome 8

Heparan-alpha-glucosaminide N-acetyltransferase
177 variants 177 Health Risk

Upload your DNA to see your personal genotypes for variants in HGSNAT.

What This Gene Does
This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009]
Associated Conditions (15)
Mucopolysaccharidosis
MPS-III-C
Retinal dystrophy
Retinitis pigmentosa 73
Sanfilippo syndrome
Retinitis pigmentosa
HGSNAT-related disorder
Retinal disorder
Inborn genetic diseases
Intellectual disability
Thyroid cancer
nonmedullary
1
Synovial plica syndrome
Acute myeloid leukemia
Key Variants
RS1064795522
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-C, Retinal dystrophy
Health Risk
RS112029032
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
Health Risk
RS1174944521
Conflicting classifications of pathogenicity
Retinal dystrophy, Mucopolysaccharidosis, MPS-III-C
Health Risk
RS121908284
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
Health Risk
RS121908285
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
Health Risk
RS1355715592
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
Health Risk
RS1401818080
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinitis pigmentosa 73, Mucopolysaccharidosis
Health Risk
RS146429523
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
Health Risk
RS184883937
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
Health Risk
RS192857413
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
Health Risk
RS200238482
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
Health Risk
RS200750044
Conflicting classifications of pathogenicity
Retinitis pigmentosa 73, Mucopolysaccharidosis, MPS-III-C
Health Risk
All Variants (177)
RSID Category Clinical Significance Conditions
RS1554537841 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS1563366896 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS1802481729 Health Risk Pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis, MPS-III-C
RS1802484500 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS1802737867 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS1803180587 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS1803593441 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS1804527418 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS1804617510 Health Risk Pathogenic Sanfilippo syndrome, Sanfilippo syndrome
RS1804781641 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS193066451 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS2130648345 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS2130745641 Health Risk Pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis, MPS-III-C
RS2130745878 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS2130746148 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS2130750698 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS2130766198 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS2130783645 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS2130783742 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS2130810933 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS2130819661 Health Risk Pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis, MPS-III-C
RS2130821307 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS2486806807 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS2486808089 Health Risk Pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis, MPS-III-C
RS2486847061 Health Risk Pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis, MPS-III-C
RS2486904791 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS2486918882 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS2486919204 Health Risk Pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis, MPS-III-C
RS2486919454 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS2487002864 Health Risk Pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis, MPS-III-C
RS2487003169 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS2487003212 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS2487083005 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS2487083124 Health Risk Pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis, MPS-III-C
RS2487096513 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS2487096952 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2487118957 Health Risk Pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis, MPS-III-C
RS370717845 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS375616017 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS483352894 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS483352895 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS483352896 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Sanfilippo syndrome
RS483352908 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS747240928 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS752939204 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS755710040 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS758216916 Health Risk Pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis, MPS-III-C
RS759057396 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
RS771455190 Health Risk Pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis, MPS-III-C
RS775078211 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
« Prev 1 2 3 4 Next »
Sign Up to Analyze Your DNA Log In