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Details for FAT4:c.6607C>T, p.Arg2203Trp

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
126336725	125415570

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.6607C>T

PROTEIN CHANGE

p.Arg2203Trp

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
2.39e-05	0.0	0.0	0.0001986	0.0	0.0	3.525e-05	0.0	0.0

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.478135	Polymorphism

DBSNP ID

1 combination linked to FAT4:c.6607C>T, p.Arg2203Trp

1 disease linked to FAT4:c.6607C>T, p.Arg2203Trp

Isolated anencephaly

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