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Details for SCRIB:c.4896A>T, p.Glu1632Asp

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
144873405	143791235

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.4896A>T

PROTEIN CHANGE

p.Glu1632Asp

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
0.0005504	0.0001096	0.0002488	0.0	0.0	0.0003185	0.001114	0.0003307	0.0

ESP
AA	EA
0.0002306	0.0009461

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.637788	Polymorphism

DBSNP ID

1 combination linked to SCRIB:c.4896A>T, p.Glu1632Asp

1 disease linked to SCRIB:c.4896A>T, p.Glu1632Asp

Isolated anencephaly

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