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Details for MEFV:c.202C>T, p.Gln68Ter

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
3306386	3256386

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.202C>T

PROTEIN CHANGE

p.Gln68Ter

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
7.964e-06	0.0001231	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	4.959701	Disease causing

DBSNP ID

1 combination linked to MEFV:c.202C>T, p.Gln68Ter

1 disease linked to MEFV:c.202C>T, p.Gln68Ter

Mayer-Rokitansky-Küster-Hauser syndrome

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