Details for ATM:c.4829G>C, p.Arg1610Thr

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
108165706108294979
VARIANT EFFECT None
ANNOTATION FLAG None
GENE ATM
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE c.4829G>C
PROTEIN CHANGE p.Arg1610Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign3.278983Disease causing
DBSNP ID NA
1 combination linked to ATM:c.4829G>C, p.Arg1610Thr OLI1057
1 disease linked to ATM:c.4829G>C, p.Arg1610Thr Primary ovarian failure
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