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Variant (rsID / SNP)

rs138976576

TPP1

rs138976576 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPP1. Location: chromosome 11, position 6,640,618. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TPP1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:6640618
Cytoband
11p15.4
HGVS
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp)
Allele change
Missense_A5D

Associated conditions / phenotypes

Neuronal ceroid lipofuscinosis 2|Seizure|Autosomal recessive spinocerebellar ataxia 7|Neuronal ceroid lipofuscinosis 2

Public references

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