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Variant (rsID / SNP)

rs200004394

TTC19

rs200004394 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTC19. Location: chromosome 17, position 15,902,823. 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
17:15902823
Cytoband
17p12
HGVS
NM_001042697.2(ZSWIM7):c.76+10C>G
Allele change
Silent

Associated conditions / phenotypes

Mitochondrial complex III deficiency nuclear type 1

Public references

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