Details for JARID2:c.1474C>T, p.Arg492Cys

CHROMOSOME 6
GENOMIC COORDINATES
hg19hg38
1549693015496699
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE JARID2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_004973.3
CDNA CHANGE c.1474C>T
PROTEIN CHANGE p.Arg492Cys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00640.00230.01590.00.01590.002

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00880.002310.0084910.0009960.00.0046920.014260.011490.002583

ESP
AAEA
0.0027250.01384
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.260914Polymorphism
DBSNP ID rs150448457
2 combinations linked to JARID2:c.1474C>T, p.Arg492Cys OLI735; OLI737
1 disease linked to JARID2:c.1474C>T, p.Arg492Cys Isolated anencephaly
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