Details for BAZ1B:c.3804_3821dupGGAGGAGGAGGAAGAAGA, p.Glu1268_Glu1273dup

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
7286163473447304
VARIANT EFFECT insertion
ANNOTATION FLAG manually_attributed
GENE BAZ1B
REFERENCE ALLELE C
ALTERNATE ALLELE CTCTTCTTCCTCCTCCTCC
TRANSCRIPT NM_032408.4
CDNA CHANGE c.3804_3821dupGGAGGAGGAGGAAGAAGA
PROTEIN CHANGE p.Glu1268_Glu1273dup
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone1.797636Polymorphism
DBSNP ID rs782297157
1 combination linked to BAZ1B:c.3804_3821dupGGAGGAGGAGGAAGAAGA, p.Glu1268_Glu1273dup OLI336
1 disease linked to BAZ1B:c.3804_3821dupGGAGGAGGAGGAAGAAGA, p.Glu1268_Glu1273dup Isolated Klippel-Feil syndrome
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