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Variant (rsID / SNP)

rs139430866

GFM1

rs139430866 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GFM1. Location: chromosome 3, position 158,369,943. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

GFM1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
3:158369943
Cytoband
3q25.32
HGVS
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp)
Allele change
Missense_R269W

Associated conditions / phenotypes

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1|Combined oxidative phosphorylation deficiency

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.