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Details for ARID1A:c.5717G>A, p.Arg1906Gln

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
27106106	26779615

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.5717G>A

PROTEIN CHANGE

p.Arg1906Gln

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001527	0.0006158	0.0006938	0.0	0.0	0.001617	0.002638	0.001142	0.0002613

ESP
AA	EA
0.0004539	0.003023

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.536534	Polymorphism

DBSNP ID

2 combinations linked to ARID1A:c.5717G>A, p.Arg1906Gln

1 disease linked to ARID1A:c.5717G>A, p.Arg1906Gln

Isolated anencephaly

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