Details for NOG:c.251C>A, p.Pro84His

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
5467183556594474
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE NOG
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_005450.4
CDNA CHANGE c.251C>A
PROTEIN CHANGE p.Pro84His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00140.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0013570.00021290.00064320.020280.00.00.00083780.0015270.0001316

ESP
AAEA
0.00.001055
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.11548Polymorphism
DBSNP ID rs138481449
1 combination linked to NOG:c.251C>A, p.Pro84His OLI756
1 disease linked to NOG:c.251C>A, p.Pro84His Isolated anencephaly
Found any issues with the data on this page? Report this entry.