Variant (rsID / SNP)

rs121908195

rs121908195 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPP1. Location: chromosome 11, position 6,640,007. Clinical significance in the table: Pathogenic.

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Reference-table entries

TPP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:6640007
Cytoband: 11p15.4
HGVS: NM_000391.4(TPP1):c.229G>A (p.Gly77Arg)
Allele change: Missense_G77R

Associated conditions / phenotypes

Neuronal ceroid lipofuscinosis 2|Neuronal ceroid lipofuscinosis

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.