Details for NOTCH2:c.3980A>G, p.Asp1327Gly

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
120469147119926524
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE NOTCH2
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_024408.3
CDNA CHANGE c.3980A>G
PROTEIN CHANGE p.Asp1327Gly
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0110.00.00290.00.0080.046

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.011050.0014230.0041590.0051310.00016470.0023440.0076310.012890.05166

ESP
AAEA
0.0011350.006977
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.50846Polymorphism
DBSNP ID rs61752484
1 combination linked to NOTCH2:c.3980A>G, p.Asp1327Gly OLI601
1 disease linked to NOTCH2:c.3980A>G, p.Asp1327Gly Disorder of sex development
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