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Details for COL4A3:c.1021C>T, p.Arg341Cys

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
228122352	227257636

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1021C>T

PROTEIN CHANGE

p.Arg341Cys

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
1.203e-05	0.0	2.897e-05	0.0	0.0	0.0	1.767e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	4.444481	Polymorphism

DBSNP ID

1 combination linked to COL4A3:c.1021C>T, p.Arg341Cys

1 disease linked to COL4A3:c.1021C>T, p.Arg341Cys

Alport syndrome

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