Variant (rsID / SNP)

rs147329295

rs147329295 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTO1. Location: chromosome 6, position 74,189,806. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MTO1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:74189806
Cytoband: 6q13
HGVS: NM_012123.4(MTO1):c.1086C>G (p.Ile362Met)
Allele change: Missense_I362M

Associated conditions / phenotypes

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

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.