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对变异基因的测序在NC_000076的基因组区域10号染色体上发现了一个位于74,210,425位的A到T转换(版本v38)，这个变异发生在Pcdh15的基因编码区域。这个改变对应于ENSMUST00000105426 mRNA序列中第7外显子的第953位氨基酸。该变异导致了谷氨酸(Asp, D)变为缬氨酸(Val, V)的替换。(来源：J:198553)
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 |
|---|
References Literature
Title
PMID
Journal
Year
IF
