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Details for CFC1:c.140G>A, p.Arg47Gln

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
131356322	130598749

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.140G>A

PROTEIN CHANGE

p.Arg47Gln

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0743	0.2663	0.0259	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.01363	0.2013	0.01053	0.001103	0.0	4.638e-05	0.0006306	0.007836	0.0002941

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.074548	Polymorphism

DBSNP ID

1 combination linked to CFC1:c.140G>A, p.Arg47Gln

1 disease linked to CFC1:c.140G>A, p.Arg47Gln

Transposition of the great arteries

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