{{Rsnum
|rsid=1800431
|Gene=HEXA
|Chromosome=15
|position=72346551
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.101
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=HEXA
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 0.0 | 100.0
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 19.9 | 55.5 | 24.7
| ASW | 10.9 | 54.5 | 34.5
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 1.0 | 99.0
| LWK | 12.8 | 56.0 | 31.2
| MEX | 0.0 | 0.0 | 0.0
| MKK | 11.5 | 42.3 | 46.2
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=1800431
|allele=C
|frequency=1
|uid=1103645651075
|type=homozygous_SNP
|hugo=BRUNOL6
|ensembl gene=ENSG00000140488
|ensembl transcript=ENST00000268097
|sift=TOLERATED
|disease=Defects in HEXA are the cause of Tay-Sachs disease (TSD) (MIM:272800); also known as GM2-gangliosidosis type I. TSD is an autosomal recessive lysosomal storage disorder that has an increased incidence among Ashkenazi Jews and French Canadians in eastern Quebec. GM2 ganglioside accumulates in the absence of HEXA activity, leading to neurodegeneration and, in the infantile form of TSD, death in early childhood. The disease exists in several phenotypes: infantile (most common and most severe), juvenile and adult (late onset).
}}

{{ neighbor
| rsid = 28940871
| distance = 246
}}

{{GET Evidence
|gene=HEXA
|aa_change=Ile436Val
|aa_change_short=I436V
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1800431
|overall_frequency_n=9324
|overall_frequency_d=10758
|overall_frequency=0.866704
|n_genomes=55
|n_genomes_annotated=0
|n_haplomes=97
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-4
|autoscore=3
|n_web_uneval=1
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Illumina Human 1M}}