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Variant (rsID / SNP)

rs77955179

TTC19

rs77955179 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTC19. Location: chromosome 17, position 15,930,734. 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
17:15930734
Cytoband
17p12
HGVS
NM_017775.4(TTC19):c.1041A>G (p.Gln347=)
Allele change
Synonymous_Q240Q

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.