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Details for SMARCA5:c.1628A>G, p.Asn543Ser

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
144459949	143538796

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1628A>G

PROTEIN CHANGE

p.Asn543Ser

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
3.991e-06	0.0	0.0	0.0	0.0	0.0	8.843e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.490503	Polymorphism

DBSNP ID

1 combination linked to SMARCA5:c.1628A>G, p.Asn543Ser

1 disease linked to SMARCA5:c.1628A>G, p.Asn543Ser

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