Details for COG6:c.726del, p.Cys242TrpfsTer7

CHROMOSOME 13
GENOMIC COORDINATES
hg19hg38
4025633839682201
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_corrected
GENE COG6
REFERENCE ALLELE GT
ALTERNATE ALLELE G
TRANSCRIPT NM_001145079.1
CDNA CHANGE c.726del
PROTEIN CHANGE p.Cys242TrpfsTer7
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone3.379694Disease causing
DBSNP ID rs1593421620
1 combination linked to COG6:c.726del, p.Cys242TrpfsTer7 OLI796
1 disease linked to COG6:c.726del, p.Cys242TrpfsTer7 Arthrogryposis syndrome
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