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中文
这种变异是位于Chd7基因的第29外显子，一个c.5690C>A的转换，预测会导致Chd7蛋白的翻译过早终止(替换为p.S1897X)，参考序列来自NC_000070.6、NM_001081417.1、CCDS38689.1和NP_001074886.1(来源：J:252089)。
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
