RS119455955 TPP1

Health Risk Chr 11:6617039 snv stop gained
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What This Variant Does
"[OMIM:?]
Associated Conditions
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis
Inborn genetic diseases
Autosomal recessive spinocerebellar ataxia 7
Abnormality of the nervous system
TPP1-related disorder
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis
Inborn genetic diseases
Autosomal recessive spinocerebellar ataxia 7
Abnormality of the nervous system
TPP1-related disorder
Population Frequencies
gnomAD ALL
100%
Other Variants in TPP1
rs119455953 rs119455954 rs56144125 rs119455956 rs28940573 rs119455957 rs119455958 rs755445790 rs121908197 rs121908198
Ask Dr. Hemsworth about this variant