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Details for SLC9A3R1:c.673G>A, p.Glu225Lys

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
72759575	74763436

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.673G>A

PROTEIN CHANGE

p.Glu225Lys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.001	0.0	0.0	0.0	0.005	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003437	0.0005594	0.0003771	0.0	0.0	0.02034	0.003278	0.004756	3.273e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.712384	Polymorphism

DBSNP ID

1 combination linked to SLC9A3R1:c.673G>A, p.Glu225Lys

1 disease linked to SLC9A3R1:c.673G>A, p.Glu225Lys

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