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AC>C frame shift due to a 1-bp deletion at base pair 19,956,966 (v38) on chromosome 16, or base pair 26,083 in the GenBank genomic regionNC_000082encodingKlhl6.The mutation corresponds to c.888delA in the mRNA sequence NM_183390 within exon 3 of 7 total exons. The mutation is predicted to result in a frame shifted protein product beginning after amino acid 279 and termination after the inclusion of 40 aberrant amino acids. (J:274963)
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
