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Details for RBMXL3:c.128G>A,

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
114424132	115189569

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.128G>A

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0016	0.0	0.0019	0.0	0.0013	0.0056

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0017	0.0001259	0.0003969	0.0	0.0	7.568e-05	0.0007087	0.002862	0.0108

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	2.069102	Polymorphism

DBSNP ID

1 combination linked to RBMXL3:c.128G>A,

1 disease linked to RBMXL3:c.128G>A,

Primary immunodeficiency

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