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Details for NAGA:c.479C>G, p.Met230Val

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
42463140	42067136

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.479C>G

PROTEIN CHANGE

p.Met230Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.000744	0.0002461	5.783e-05	0.0	0.0	0.001988	0.00117	0.0008146	0.0

ESP
AA	EA
0.000227	0.0005814

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.387153	Disease causing

DBSNP ID

1 combination linked to NAGA:c.479C>G, p.Met230Val

1 disease linked to NAGA:c.479C>G, p.Met230Val

Transposition of the great arteries

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