Details for SPRY4:c.622delG, p.Glu208SerfsTer74

CHROMOSOME 5
GENOMIC COORDINATES
hg19hg38
141694120142314555
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SPRY4
REFERENCE ALLELE TC
ALTERNATE ALLELE C
TRANSCRIPT NM_030964.5
CDNA CHANGE c.622delG
PROTEIN CHANGE p.Glu208SerfsTer74
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.082249None
DBSNP ID NA
1 combination linked to SPRY4:c.622delG, p.Glu208SerfsTer74 OLI1298
1 disease linked to SPRY4:c.622delG, p.Glu208SerfsTer74 Kallmann syndrome
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