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EN
The molecular lesion is a C to A transversion at base pair 61,303,722 (v38) on chromosome 10, or base pair 6,045 in the GenBank genomic region NC_000076. This corresponds to nucleotide 1,513 in the mRNA sequence NM_011073, within exon 3 of 3 total exons. The mutation results in substitution of a premature stop codon for a tyrosine at residue 486 (Y486Ter). (J:216044)
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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References Literature
Title
PMID
Journal
Year
IF
