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Details for COL4A4:c.4715C>T, p.Pro1572Leu

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
227872828	227008112

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.4715C>T

PROTEIN CHANGE

p.Pro1572Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0029	0.001	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001569	6.483e-05	0.0002321	0.0	0.001281	0.0	0.0	0.0001659	0.0001962

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.832101	Disease causing

DBSNP ID

1 combination linked to COL4A4:c.4715C>T, p.Pro1572Leu

1 disease linked to COL4A4:c.4715C>T, p.Pro1572Leu

Alport syndrome

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