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Details for SCO2:c.418G>A, p.Glu140Lys

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
50962423	50523994

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.418G>A

PROTEIN CHANGE

p.Glu140Lys

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
7.962e-05	0.0	5.784e-05	0.0	0.0	0.0	0.0001585	0.0	0.0

ESP
AA	EA
0.0	0.0003488

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.470635	Disease causing

DBSNP ID

1 combination linked to SCO2:c.418G>A, p.Glu140Lys

1 disease linked to SCO2:c.418G>A, p.Glu140Lys

Transposition of the great arteries

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