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A T to C change at position 202 (c.202T>C) resulting in a tyrosine to histidine substitution at amino acid 68 (p.Y68H) was introduced in exon 3. This is a mutation seen in PTEN Hamartoma Tumor Syndrome (PHTS) individuals diagnosed with autism spectrum disorder. (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
