Variant (rsID / SNP)

rs397515379

rs397515379 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTPA. Location: chromosome 8, position 63,978,501. Clinical significance in the table: Pathogenic.

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Reference-table entries

TTPAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Insertion
Chromosome / position: 8:63978501
Cytoband: 8q12.3
HGVS: NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs)

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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