Details for ATR:c.2783A>G, p.Gln928Arg

CHROMOSOME 3
GENOMIC COORDINATES
hg19hg38
142272091142553249
VARIANT EFFECT None
ANNOTATION FLAG None
GENE ATR
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE c.2783A>G
PROTEIN CHANGE p.Gln928Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging3.121923Polymorphism
DBSNP ID NA
1 combination linked to ATR:c.2783A>G, p.Gln928Arg OLI1039
1 disease linked to ATR:c.2783A>G, p.Gln928Arg Primary ovarian failure
Found any issues with the data on this page? Report this entry.