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Details for CC2D2A:c.3084delG, p.Lys1029ArgfsTer3

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
15565045	15563422

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

CG

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.3084delG

PROTEIN CHANGE

p.Lys1029ArgfsTer3

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
8.287e-06	0.0001347	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	5.313186	Disease causing

DBSNP ID

1 combination linked to CC2D2A:c.3084delG, p.Lys1029ArgfsTer3

1 disease linked to CC2D2A:c.3084delG, p.Lys1029ArgfsTer3

Meckel syndrome

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