Variant (rsID / SNP)

rs119470018

rs119470018 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GFM1. Location: chromosome 3, position 158,364,685. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

GFM1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:158364685
Cytoband: 3q25.32
HGVS: NM_024996.7(GFM1):c.521A>G (p.Asn174Ser)
Allele change: Missense_N174S

Associated conditions / phenotypes

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

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.