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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
THG1L
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia, autosomal recessive 28
GBenign
THG1L
(L100P +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
THG1L
(L294P +3 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive 28
GUncertain significance
THG1L, LOC129995144
(T46N)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
LOC129995144, THG1L
(V55A)
Single nucleotide variant
(5 prime UTR variant +1 more)
Spinocerebellar ataxia, autosomal recessive 28
+1 more
GLikely pathogenic
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