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Details for COL4A6:c.4825G>A, p.Ala1609Thr

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
107400481	108157251

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.4825G>A

PROTEIN CHANGE

p.Ala1609Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0003	0.001	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
5.54e-06	7.617e-05	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.616414	None

DBSNP ID

1 combination linked to COL4A6:c.4825G>A, p.Ala1609Thr

2 diseases linked to COL4A6:c.4825G>A, p.Ala1609Thr

Benign familial hematuria; Alport syndrome

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