Variant (rsID / SNP)

rs141789665

rs141789665 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GFM2. Location: chromosome 5, position 74,021,509. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GFM2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:74021509
Cytoband: 5q13.3
HGVS: NM_032380.5(GFM2):c.1984T>A (p.Ser662Thr)
Allele change: Missense_S694T

Associated conditions / phenotypes

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1|Combined oxidative phosphorylation deficiency 39

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.