Variant (rsID / SNP)

rs104894232

rs104894232 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HYLS1, PUS3. Location: chromosome 11, position 125,769,895. Clinical significance in the table: Pathogenic.

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Reference-table entries

HYLS1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:125769895
Cytoband: 11q24.2
HGVS: NM_031307.4(PUS3):c.-47+3170T>C
Allele change: Missense_D211G

Associated conditions / phenotypes

Hydrolethalus syndrome|Hydrolethalus syndrome 1

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.