Variant (rsID / SNP)

rs758912548

rs758912548 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TUFM. Location: chromosome 16, position 28,856,257. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TUFMConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 16:28856257
Cytoband: 16p11.2
HGVS: NM_003321.5(TUFM):c.519+15G>A
Allele change: Silent

Associated conditions / phenotypes

Combined oxidative phosphorylation defect type 4

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.