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Details for COL4A3:c.4484A>G, p.Gln1495Arg

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
228173636	227308920

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.4484A>G

PROTEIN CHANGE

p.Gln1495Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0026	0.0	0.0029	0.0	0.006	0.0051

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.006293	0.001744	0.00168	0.001192	0.0	0.002047	0.01108	0.004785	0.004771

ESP
AA	EA
0.002351	0.009557

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	2.894463	Polymorphism

DBSNP ID

1 combination linked to COL4A3:c.4484A>G, p.Gln1495Arg

2 diseases linked to COL4A3:c.4484A>G, p.Gln1495Arg

Benign familial hematuria; Alport syndrome

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