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Details for RERE:c.4054G>A, p.Ala1352Thr

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
8418541	8358481

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.4054G>A

PROTEIN CHANGE

p.Ala1352Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0	0.003	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0005291	0.0	0.0	0.0	0.003401	0.0002257	0.0003074	0.0	0.0008361

ESP
AA	EA
0.0	0.0004661

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.05433	Polymorphism

DBSNP ID

1 combination linked to RERE:c.4054G>A, p.Ala1352Thr

1 disease linked to RERE:c.4054G>A, p.Ala1352Thr

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