Details for PROKR2:c.238delC, p.Arg80AlafsTer82

CHROMOSOME 20
GENOMIC COORDINATES
hg19hg38
52947775314131
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE PROKR2
REFERENCE ALLELE CG
ALTERNATE ALLELE C
TRANSCRIPT NM_144773.2
CDNA CHANGE c.238delC
PROTEIN CHANGE p.Arg80AlafsTer82
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.355554Disease causing
DBSNP ID NA
1 combination linked to PROKR2:c.238delC, p.Arg80AlafsTer82 OLI864
1 disease linked to PROKR2:c.238delC, p.Arg80AlafsTer82 Kallmann syndrome
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