Variant (rsID / SNP)

rs28935476

rs28935476 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HSD17B10. Clinical significance in the table: Pathogenic.

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Reference-table entries

HSD17B10Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.22
HGVS: NM_004493.3(HSD17B10):c.364C>G (p.Leu122Val)
Allele change: Missense_L122V

Associated conditions / phenotypes

HSD10 mitochondrial disease

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.