This site uses cookies!

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 MEFV:c.1223G>A, p.Arg408Gln

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
3299468	3249468

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1223G>A

PROTEIN CHANGE

p.Arg408Gln

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0172	0.0015	0.0072	0.0546	0.004	0.0204

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.01321	0.004443	0.005988	0.02875	0.05296	0.01495	0.008131	0.0121	0.01487

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.163423	Disease causing

DBSNP ID

4 combinations linked to MEFV:c.1223G>A, p.Arg408Gln

OLI1754; OLI1759; OLI1776; OLI1789

1 disease linked to MEFV:c.1223G>A, p.Arg408Gln

Autoinflammatory syndrome

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