Details for ATR:c.4610T>A, p.Leu1537Ter

CHROMOSOME 3
GENOMIC COORDINATES
hg19hg38
142232374142513532
VARIANT EFFECT None
ANNOTATION FLAG None
GENE ATR
REFERENCE ALLELE A
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.4610T>A
PROTEIN CHANGE p.Leu1537Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone7.86448Disease causing
DBSNP ID NA
1 combination linked to ATR:c.4610T>A, p.Leu1537Ter OLI1053
1 disease linked to ATR:c.4610T>A, p.Leu1537Ter Primary ovarian failure
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