Variant (rsID / SNP)

rs372564255

rs372564255 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPP1. Location: chromosome 11, position 6,635,816. 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: 11:6635816
Cytoband: 11p15.4
HGVS: NM_000391.4(TPP1):c.1653C>G (p.Pro551=)
Allele change: Synonymous_P551P

Associated conditions / phenotypes

Neuronal ceroid lipofuscinosis 2

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.