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Details for DSC2:c.2603C>T, p.Ser868Phe

CHROMOSOME

18

GENOMIC COORDINATES

hg19	hg38
28648084	31068118

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2603C>T

PROTEIN CHANGE

p.Ser868Phe

ALLELE FREQUENCY

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

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
3.98e-05	0.000123	2.891e-05	0.0	0.0	0.0	6.164e-05	0.0	0.0

ESP
AA	EA
0.000227	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.074119	None

DBSNP ID

1 combination linked to DSC2:c.2603C>T, p.Ser868Phe

1 disease linked to DSC2:c.2603C>T, p.Ser868Phe

Sudden infant death syndrome

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