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Details for CFTR:c.650A>G, p.Glu217Gly

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
117175372	117535318

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.650A>G

PROTEIN CHANGE

p.Glu217Gly

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.003	0.0	0.0	0.0069	0.007	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.004442	0.0	0.0	9.923e-05	0.009515	0.03479	0.00109	0.006352	0.0008166

ESP
AA	EA
0.0	0.0004651

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.861123	Polymorphism

DBSNP ID

1 combination linked to CFTR:c.650A>G, p.Glu217Gly

1 disease linked to CFTR:c.650A>G, p.Glu217Gly

Mayer-Rokitansky-Küster-Hauser syndrome

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