Details for INVS:c.740A>G, p.Asn247Ser

CHROMOSOME 9
GENOMIC COORDINATES
hg19hg38
103002466100240184
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE INVS
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_014425.4
CDNA CHANGE c.740A>G
PROTEIN CHANGE p.Asn247Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00120.00.00290.00.0040.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0048080.0011070.0017920.0056550.00.011230.0069640.0044050.0003267

ESP
AAEA
0.0011350.007791
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.218558Polymorphism
DBSNP ID rs41312220
1 combination linked to INVS:c.740A>G, p.Asn247Ser OLI723
1 disease linked to INVS:c.740A>G, p.Asn247Ser Isolated anencephaly
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