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Details for FREM2:c.8479C>T, p.Arg2827Cys

CHROMOSOME

13

GENOMIC COORDINATES

hg19	hg38
39450454	38876317

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.8479C>T

PROTEIN CHANGE

p.Arg2827Cys

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
2.387e-05	0.0001231	0.0	0.0	5.439e-05	4.62e-05	1.76e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.384237	Polymorphism

DBSNP ID

1 combination linked to FREM2:c.8479C>T, p.Arg2827Cys

1 disease linked to FREM2:c.8479C>T, p.Arg2827Cys

Isolated Klippel-Feil syndrome

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