Details for STAR:c.465+1G>A, p.103_155del

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3800380638146288
VARIANT EFFECT None
ANNOTATION FLAG None
GENE STAR
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.465+1G>A
PROTEIN CHANGE p.103_155del
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone6.371183Disease causing
DBSNP ID NA
1 combination linked to STAR:c.465+1G>A, p.103_155del OLI1372
1 disease linked to STAR:c.465+1G>A, p.103_155del Primary adrenal insufficiency
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