We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for COL4A4:c.193G>A, p.Gly65Ser

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
227985864	227121148

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.193G>A

PROTEIN CHANGE

p.Gly65Ser

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
1.628e-05	0.0	0.0001161	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.196878	Disease causing

DBSNP ID

1 combination linked to COL4A4:c.193G>A, p.Gly65Ser

1 disease linked to COL4A4:c.193G>A, p.Gly65Ser

Found any issues with the data on this page? Report this entry.