Log In|Sign Up
EN
Sequencing of the mutated gene identified an A to T transversion at base pair 74210425 (v38) on Chromosome 10 in the GenBank genomic region NC_000076 encoding Pcdh15. The mutation corresponds to residue 953 in the ENSMUST00000105426 mRNA sequence within exon 7 of 35 total exons. The mutation results in an aspartic acid (D) to valine (V) substitution at residue 183. (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：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
