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Details for MFSD8:c.353A>G, p.Asn118Ser

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
128864993	127943838

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.353A>G

PROTEIN CHANGE

p.Asn118Ser

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
7.958e-06	0.0	0.0	0.0	0.0001087	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.463952	Polymorphism

DBSNP ID

1 combination linked to MFSD8:c.353A>G, p.Asn118Ser

1 disease linked to MFSD8:c.353A>G, p.Asn118Ser

Rare pervasive developmental disorder

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