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A to G transition at base pair 46,308,439 (v38) on chromosome 19, or base pair 4,120 in the GenBank genomic regionNC_000085.The mutation corresponds to residue 1,256 in the mRNA sequence NM_019408 (variant 1) within exon 10 of 22 total exons. The mutation results in an aspartic acid to glycine substitution at position 316 (D316G) in all isoforms of the NF-B2 protein. (J:274961)
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
