Details for SUFU:c.1157+6C>T,

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
104375165102615408
VARIANT EFFECT splicing
ANNOTATION FLAG manually_attributed
GENE SUFU
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_016169.4
CDNA CHANGE c.1157+6C>T
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.186e-050.00.00.00.0004350.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone0.488086Polymorphism
DBSNP ID rs535323089
1 combination linked to SUFU:c.1157+6C>T, OLI337
1 disease linked to SUFU:c.1157+6C>T, Isolated Klippel-Feil syndrome
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