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Details for RIPK1:c.700G>A, p.Glu234Lys

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
3085504	3085270

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.700G>A

PROTEIN CHANGE

p.Glu234Lys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.002	0.0076	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0005408	0.007936	0.0001735	0.0	0.0	0.0	0.0	0.0001629	0.0

ESP
AA	EA
0.007717	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.155996	Polymorphism

DBSNP ID

1 combination linked to RIPK1:c.700G>A, p.Glu234Lys

1 disease linked to RIPK1:c.700G>A, p.Glu234Lys

Primary ovarian failure

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