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Variant (rsID / SNP)

rs191462023

GFM1

rs191462023 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GFM1. Location: chromosome 3, position 158,366,879. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GFM1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:158366879
Cytoband
3q25.32
HGVS
NM_024996.7(GFM1):c.622G>A (p.Glu208Lys)
Allele change
Missense_E208K

Associated conditions / phenotypes

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Public references

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