Details for FOLR3:c.755T>A, p.Ile252Asn

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
7185076672139722
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE FOLR3
REFERENCE ALLELE T
ALTERNATE ALLELE A
TRANSCRIPT ENST00000456237.1
CDNA CHANGE c.755T>A
PROTEIN CHANGE p.Ile252Asn
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00080.00.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00070030.00030812.891e-050.00.00.00013860.0014170.00097880.0

ESP
AAEA
0.00045450.001863
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.313561Polymorphism
DBSNP ID rs184446689
1 combination linked to FOLR3:c.755T>A, p.Ile252Asn OLI712
1 disease linked to FOLR3:c.755T>A, p.Ile252Asn Isolated anencephaly
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