Details for XRCC1:c.20G>T, p.Arg7Leu

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
4407959143575439
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE XRCC1
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_006297.2
CDNA CHANGE c.20G>T
PROTEIN CHANGE p.Arg7Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00.00.00.0030.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0014780.00055990.00063980.00.00.0008350.0027580.0014780.0

ESP
AAEA
0.0002270.001977
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign3.390882Polymorphism
DBSNP ID rs2307186
1 combination linked to XRCC1:c.20G>T, p.Arg7Leu OLI700
1 disease linked to XRCC1:c.20G>T, p.Arg7Leu Isolated anencephaly
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