Details for RNF123:c.3150+17C>T,

CHROMOSOME 3
GENOMIC COORDINATES
hg19hg38
4975316449715731
VARIANT EFFECT None
ANNOTATION FLAG None
GENE RNF123
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_022064.5
CDNA CHANGE c.3150+17C>T
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone0.206129Polymorphism
DBSNP ID NA
1 combination linked to RNF123:c.3150+17C>T, OLI1329
1 disease linked to RNF123:c.3150+17C>T, Primary immunodeficiency

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