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Details for NLRP12:c.1343G>C, p.Gly448Ala

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
54313570	53810316

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1343G>C

PROTEIN CHANGE

p.Gly448Ala

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
4.791e-05	0.0	5.784e-05	0.0	0.0	0.0	7.945e-05	0.0	3.267e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.444862	Polymorphism

DBSNP ID

2 combinations linked to NLRP12:c.1343G>C, p.Gly448Ala

OLI1778; OLI1782

1 disease linked to NLRP12:c.1343G>C, p.Gly448Ala

Autoinflammatory syndrome

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