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Details for ADD3:c.1975G>C, p.Glu659Gln

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
111893230	110133472

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.1975G>C

PROTEIN CHANGE

p.Glu659Gln

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
1.194e-05	0.0	5.784e-05	0.0	0.0	0.0	8.797e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.63476	Polymorphism

DBSNP ID

1 combination linked to ADD3:c.1975G>C, p.Glu659Gln

2 diseases linked to ADD3:c.1975G>C, p.Glu659Gln

Genetic steroid-resistant nephrotic syndrome; Microcephaly-cardiomyopathy syndrome

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