Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs140349036

TPP1

rs140349036 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPP1. Location: chromosome 11, position 6,637,938. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

TPP1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:6637938
Cytoband
11p15.4
HGVS
NM_000391.4(TPP1):c.840G>C (p.Leu280=)
Allele change
Synonymous_L280L

Associated conditions / phenotypes

Neuronal ceroid lipofuscinosis 2|Seizure

Public references

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