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C to T transition at base pair 86,350,304 (v38) on chromosome 3, or base pair 126,401 in the GenBank genomic region NC_000069 encoding Lrba. The mutation corresponds to residue 4,159 (c.4159C>T) in the mRNA sequence NM_030695.2 within exon 24 of 57 total exons. The mutation results in substitution of glutamine 1,292 for a premature stop codon (p.Q1292*) in the LRBA protein. (J:274652)
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
