Details for PMS2:c.2148dupC,

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
60224805982849
VARIANT EFFECT None
ANNOTATION FLAG None
GENE PMS2
REFERENCE ALLELE CG
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE c.2148dupC
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone1.154218Disease causing
DBSNP ID NA
1 combination linked to PMS2:c.2148dupC, OLI1135
1 disease linked to PMS2:c.2148dupC, Lynch syndrome
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