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Details for MDGA1:c.2324G>A, p.Arg775Gln

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
37612350	37644574

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2324G>A

PROTEIN CHANGE

p.Arg775Gln

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
2.053e-05	0.0	2.988e-05	0.0	0.0	0.0	2.711e-05	0.0	3.344e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.436398	Polymorphism

DBSNP ID

1 combination linked to MDGA1:c.2324G>A, p.Arg775Gln

1 disease linked to MDGA1:c.2324G>A, p.Arg775Gln

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