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This mutation is a c.5690C>A change in exon 29 is predicted to result in premature termination of translation of Chd7 (c.5690C>A, p.S1897X, NCBI reference sequences NC_000070.6, NM_001081417.1, CCDS38689.1, NP_001074886.1). (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
