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中文
这个描述的变异发生在19号染色体的第5,760,826位（v38）或者NC_000085基因组区域的第10,589位，对应于mRNA序列NM_023912.3的第10个外显子的第1,551位（c.1551G>T）。这个改变导致SCYL1蛋白中第488位的缬氨酸被苯丙氨酸取代（p.V488F）。参考文献为J:274649。
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
