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Details for MEFV:c.1105C>T, p.Pro369Ser

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
3299586	3249586

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1105C>T

PROTEIN CHANGE

p.Pro369Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0202	0.0023	0.0072	0.0675	0.004	0.0215

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.01456	0.004375	0.006102	0.0288	0.07002	0.01493	0.008144	0.01224	0.01542

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	0.994016	Disease causing

DBSNP ID

4 combinations linked to MEFV:c.1105C>T, p.Pro369Ser

OLI1754; OLI1759; OLI1776; OLI1789

1 disease linked to MEFV:c.1105C>T, p.Pro369Ser

Autoinflammatory syndrome

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