Variant (rsID / SNP)

rs200405157

rs200405157 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TAFAZZIN, DNASE1L1. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TAFAZZINConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr)
Allele change: Missense_H111Y

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.