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Details for RASA1:c.2207A>G, p.His736Arg

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
86672720	87376903

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.2207A>G

PROTEIN CHANGE

p.His736Arg

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
3.984e-06	0.0	0.0	0.0	0.0	0.0	8.819e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.329207	Disease causing

DBSNP ID

1 combination linked to RASA1:c.2207A>G, p.His736Arg

1 disease linked to RASA1:c.2207A>G, p.His736Arg

Cerebral arteriovenous malformation

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