Details for NEUROD1:c.723C>G, p.His241Gln

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
182542865181678138
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE NEUROD1
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_002500.4
CDNA CHANGE c.723C>G
PROTEIN CHANGE p.His241Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00180.00.00.00.00.0092

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00083916.154e-055.782e-050.05.437e-050.06.155e-050.00032570.006467

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging2.759984Polymorphism
DBSNP ID rs561017686
1 combination linked to NEUROD1:c.723C>G, p.His241Gln OLI112
1 disease linked to NEUROD1:c.723C>G, p.His241Gln MODY
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