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Variant (rsID / SNP)

rs78882347

TTC19

rs78882347 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTC19. Location: chromosome 17, position 15,928,412. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TTC19Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:15928412
Cytoband
17p12
HGVS
NM_017775.4(TTC19):c.758C>T (p.Pro253Leu)
Allele change
Missense_P146L

Associated conditions / phenotypes

Mitochondrial complex III deficiency nuclear type 2

Public references

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