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Details for COL4A4:c.2510G>C, p.Gly837Ala

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
227922190	227057474

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.2510G>C

PROTEIN CHANGE

p.Gly837Ala

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.002	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
8.189e-06	0.0	0.0	0.0	0.0001124	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.50408	Disease causing

DBSNP ID

1 combination linked to COL4A4:c.2510G>C, p.Gly837Ala

1 disease linked to COL4A4:c.2510G>C, p.Gly837Ala

Thin Basement Membrane Nephropathy

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