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Details for COL4A5:c.1871G>A, p.Gly624Asp

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
107842023	108598793

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1871G>A

PROTEIN CHANGE

p.Gly624Asp

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
8.743e-05	0.0	0.0	0.0	0.0	0.0	0.0001959	0.0	0.0

ESP
AA	EA
0.0	0.0001486

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.36709	Disease causing

DBSNP ID

1 combination linked to COL4A5:c.1871G>A, p.Gly624Asp

2 diseases linked to COL4A5:c.1871G>A, p.Gly624Asp

Benign familial hematuria; Alport syndrome

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