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Details for RET:c.2379delC, p.Cys794AlafsTer75

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
43613913	43118465

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

GC

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.2379delC

PROTEIN CHANGE

p.Cys794AlafsTer75

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	5.807827	Disease causing

DBSNP ID

1 combination linked to RET:c.2379delC, p.Cys794AlafsTer75

1 disease linked to RET:c.2379delC, p.Cys794AlafsTer75

Hirschsprung disease

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