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中文
在第202位由A变为T(即c.202T>C)的改变导致了酪氨酸被替换为histidine(即p.Y68H)，这个变异发生在第3外显子。这种变异在PTEN Hamartoma Tumor Syndrome(PTHS)中被诊断为自闭症谱系障碍的个体中常见(参考文献：J:339931)。
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
