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Details for CFC1:c.61A>C, p.Asn21His

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
131356495	130598922

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.61A>C

PROTEIN CHANGE

p.Asn21His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0645	0.2315	0.0216	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.01253	0.193	0.01022	0.003798	0.0	7.302e-05	0.0008326	0.007928	6.476e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.165123	Polymorphism

DBSNP ID

1 combination linked to CFC1:c.61A>C, p.Asn21His

1 disease linked to CFC1:c.61A>C, p.Asn21His

Transposition of the great arteries

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