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Details for COL4A4:c.1459+1G>A,

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
227954583	227089867

VARIANT EFFECT

splicing

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1459+1G>A

PROTEIN CHANGE

None

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
8.019e-06	0.0	0.0	0.0	5.567e-05	0.0	8.834e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	4.874844	Disease causing

DBSNP ID

1 combination linked to COL4A4:c.1459+1G>A,

1 disease linked to COL4A4:c.1459+1G>A,

Alport syndrome

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