Details for NOTCH1:c.2734C>T, p.Arg912Trp

CHROMOSOME 9
GENOMIC COORDINATES
hg19hg38
139405111136510659
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE NOTCH1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_017617.4
CDNA CHANGE c.2734C>T
PROTEIN CHANGE p.Arg912Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00080.00.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0016990.00056190.0019190.00051290.00017160.0016140.0025670.0027939.965e-05

ESP
AAEA
0.00049460.003236
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.700692Polymorphism
DBSNP ID rs201620358
1 combination linked to NOTCH1:c.2734C>T, p.Arg912Trp OLI604
1 disease linked to NOTCH1:c.2734C>T, p.Arg912Trp Disorder of sex development
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