Variant (rsID / SNP)

rs104893743

rs104893743 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HYAL1. Location: chromosome 3, position 50,339,586. Clinical significance in the table: Uncertain significance.

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Reference-table entries

HYAL1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:50339586
Cytoband: 3p21.31
HGVS: NM_033159.4(HYAL1):c.802G>A (p.Glu268Lys)
Allele change: Missense_E268K

Associated conditions / phenotypes

Deficiency of hyaluronoglucosaminidase

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.