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Details for OBSCN:c.20563C>A, p.Arg6855Ser

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
228528584	228340883

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.20563C>A

PROTEIN CHANGE

p.Arg6855Ser

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.08511	Polymorphism

DBSNP ID

1 combination linked to OBSCN:c.20563C>A, p.Arg6855Ser

1 disease linked to OBSCN:c.20563C>A, p.Arg6855Ser

Sudden infant death syndrome

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