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Variant (rsID / SNP)

rs121917850

TTPA

rs121917850 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTPA. Location: chromosome 8, position 63,976,853. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TTPAConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:63976853
Cytoband
8q12.3
HGVS
NM_000370.3(TTPA):c.575G>A (p.Arg192His)
Allele change
Missense_R192H

Associated conditions / phenotypes

Ataxia, Friedreich-like, with isolated vitamin E deficiency|Familial isolated deficiency of vitamin E

Public references

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