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Details for ABCA13:c.13662G>A, p.Met4554Ile

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
48556342	48516746

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.13662G>A

PROTEIN CHANGE

p.Met4554Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.001	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001486	0.0	0.0	0.0	0.002004	0.0	8.861e-06	0.0	0.0

ESP
AA	EA
0.0	0.0001217

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.293923	Polymorphism

DBSNP ID

1 combination linked to ABCA13:c.13662G>A, p.Met4554Ile

1 disease linked to ABCA13:c.13662G>A, p.Met4554Ile

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