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Details for COL4A4:c.4910G>A, p.Arg1637Glnl

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
227872204	227007488

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.4910G>A

PROTEIN CHANGE

p.Arg1637Glnl

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	0.0001158	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	3.277477	Polymorphism

DBSNP ID

1 combination linked to COL4A4:c.4910G>A, p.Arg1637Glnl

1 disease linked to COL4A4:c.4910G>A, p.Arg1637Glnl

Alport syndrome

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