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Details for COL4A3:c.469G>C, p.Gly157Arg

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
228113159	227248443

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.469G>C

PROTEIN CHANGE

p.Gly157Arg

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
1.604e-05	0.0	0.0	0.0	0.0	0.0	8.835e-06	0.0001655	6.536e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.568697	Disease causing

DBSNP ID

1 combination linked to COL4A3:c.469G>C, p.Gly157Arg

1 disease linked to COL4A3:c.469G>C, p.Gly157Arg

Thin Basement Membrane Nephropathy

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