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Details for ACADM:c.739C>T, p.Arg247Ter

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
76215122	75749437

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.739C>T

PROTEIN CHANGE

p.Arg247Ter

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	7.776232	Disease causing

DBSNP ID

1 combination linked to ACADM:c.739C>T, p.Arg247Ter

1 disease linked to ACADM:c.739C>T, p.Arg247Ter

Transposition of the great arteries

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