Details for CCDC141:c.3474+5A>G,

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
179710348178845621
VARIANT EFFECT None
ANNOTATION FLAG None
GENE CCDC141
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_173648
CDNA CHANGE c.3474+5A>G
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone0.265481Polymorphism
DBSNP ID NA
1 combination linked to CCDC141:c.3474+5A>G, OLI1555
1 disease linked to CCDC141:c.3474+5A>G, 46,XY disorder of sex development

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