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Details for ARID1A:c.472C>T, p.Pro158Ser

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
27023366	26696875

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.472C>T

PROTEIN CHANGE

p.Pro158Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0014	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0006985	0.0	0.0	0.0	0.0	0.0002479	0.001362	0.003759	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.980197	Polymorphism

DBSNP ID

1 combination linked to ARID1A:c.472C>T, p.Pro158Ser

1 disease linked to ARID1A:c.472C>T, p.Pro158Ser

Isolated anencephaly

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