Details for ADGRA3:c.2556A>C, p.Lys852Asn

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
2239423922392616
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE ADGRA3
REFERENCE ALLELE T
ALTERNATE ALLELE G
TRANSCRIPT NM_145290.3
CDNA CHANGE c.2556A>C
PROTEIN CHANGE p.Lys852Asn
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.01720.00380.00140.05650.0050.0184

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.010320.0063370.00052060.0008930.058870.026010.00110.0057110.02149

ESP
AAEA
0.0061280.0002326
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.106681Polymorphism
DBSNP ID rs117922332
1 combination linked to ADGRA3:c.2556A>C, p.Lys852Asn OLI725
1 disease linked to ADGRA3:c.2556A>C, p.Lys852Asn Isolated anencephaly
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