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Details for RBM20:c.1364C>T, p.Ser455Leu

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
112544125	110784367

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1364C>T

PROTEIN CHANGE

p.Ser455Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.002	0.0	0.0058	0.0	0.006	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.005602	0.001138	0.006724	0.0179	0.0	0.0009822	0.007812	0.009234	0.0006587

ESP
AA	EA
0.0	0.01037

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.513736	Polymorphism

DBSNP ID

1 combination linked to RBM20:c.1364C>T, p.Ser455Leu

1 disease linked to RBM20:c.1364C>T, p.Ser455Leu

Sudden infant death syndrome

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