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Details for RFC1:c.724C>G, p.Arg242Gly

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
39322991	39321371

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

ENST00000349703.7

CDNA CHANGE

c.724C>G

PROTEIN CHANGE

p.Arg242Gly

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
8.015e-06	0.0	0.0	0.0	0.0	0.0	1.768e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.376259	Polymorphism

DBSNP ID

1 combination linked to RFC1:c.724C>G, p.Arg242Gly

1 disease linked to RFC1:c.724C>G, p.Arg242Gly

Isolated anencephaly

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