Details for FLRT3:c.88T>C, p.Ser30Pro

CHROMOSOME 20
GENOMIC COORDINATES
hg19hg38
1430806514327419
VARIANT EFFECT None
ANNOTATION FLAG None
GENE FLRT3
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_013281
CDNA CHANGE c.88T>C
PROTEIN CHANGE p.Ser30Pro
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.987648Polymorphism
DBSNP ID NA
1 combination linked to FLRT3:c.88T>C, p.Ser30Pro OLI1538
1 disease linked to FLRT3:c.88T>C, p.Ser30Pro 46,XY disorder of sex development

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