Details for FRAS1:c.5857-434C>T,

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
7936744778446293
VARIANT EFFECT unknown
ANNOTATION FLAG automatically_attributed_and_verified
GENE FRAS1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_025074.7
CDNA CHANGE c.5857-434C>T
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone0.51505Polymorphism
DBSNP ID NA
1 combination linked to FRAS1:c.5857-434C>T, OLI351
1 disease linked to FRAS1:c.5857-434C>T, 46,XY disorder of sex development

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