Variant (rsID / SNP)

rs387906500

rs387906500 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AIFM1. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

AIFM1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Cytoband: Xq26.1
HGVS: NM_004208.4(AIFM1):c.603_605del (p.Arg201del)

Associated conditions / phenotypes

Severe X-linked mitochondrial encephalomyopathy

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.