Variant (rsID / SNP)

rs119455957

rs119455957 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPP1. Location: chromosome 11, position 6,637,927. 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: 11:6637927
Cytoband: 11p15.4
HGVS: NM_000391.4(TPP1):c.851G>T (p.Gly284Val)
Allele change: Missense_G284V

Associated conditions / phenotypes

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