Variant (rsID / SNP)

rs140077535

rs140077535 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GFM2. Location: chromosome 5, position 74,021,950. 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: 5:74021950
Cytoband: 5q13.3
HGVS: NM_032380.5(GFM2):c.1728T>A (p.Asp576Glu)
Allele change: Missense_D608E

Associated conditions / phenotypes

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.