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Variant (rsID / SNP)

rs757075712

TFAM

rs757075712 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TFAM. Location: chromosome 10, position 60,150,616. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

TFAMLikely pathogenic
Clinical significance (as recorded)
Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
10:60150616
Cytoband
10q21.1
HGVS
NM_003201.3(TFAM):c.533C>T (p.Pro178Leu)
Allele change
Missense_P178L

Associated conditions / phenotypes

Mitochondrial DNA depletion syndrome, hepatocerebral form|Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)

Public references

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