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Details for RARS2:c.1A>G, p.Met1Val

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
88299675	87589957

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.1A>G

PROTEIN CHANGE

p.Met1Val

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
0.0001116	6.234e-05	0.0001445	0.0	0.0001088	0.0	7.933e-05	0.0001632	0.0003266

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.071238	Disease causing

DBSNP ID

1 combination linked to RARS2:c.1A>G, p.Met1Val

1 disease linked to RARS2:c.1A>G, p.Met1Val

Transposition of the great arteries

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