Variant (rsID / SNP)

rs104894942

rs104894942 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TAFAZZIN, DNASE1L1. Clinical significance in the table: Pathogenic.

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Reference-table entries

TAFAZZINPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_000116.5(TAFAZZIN):c.280C>A (p.Arg94Ser)
Allele change: Missense_R94S

Associated conditions / phenotypes

3-Methylglutaconic aciduria type 2

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.