Details for FRAS1:c.7372-24A>G,

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
7939331078472156
VARIANT EFFECT unknown
ANNOTATION FLAG automatically_attributed_and_verified
GENE FRAS1
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_025074.7
CDNA CHANGE c.7372-24A>G
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00620.00.01590.01590.0030.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0098330.0013590.039240.00.019410.024420.00088780.0076340.001701

ESP
AAEA
0.00053130.0003645
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone0.842936Polymorphism
DBSNP ID rs78365404
1 combination linked to FRAS1:c.7372-24A>G, OLI350
1 disease linked to FRAS1:c.7372-24A>G, 46,XY disorder of sex development
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