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C to T substitution at base pair 53,518,559 (v38) on chromosome 9, or base pair 18,258 in the GenBank genomic regionNC_000075.The mutation corresponds to a G>A substitution at residue 1,315 in the mRNA sequence NM_007499 within exon 9 of 64 total exons. The mutation results in substitution of tryptophan 392 for a premature stop codon (W392*) in the ATM protein. (J:274964)
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
