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Details for MYD88:c.196_198delGGA, p.Thr66del

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
38180386	38138895

VARIANT EFFECT

deletion

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

GACA

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.196_198delGGA

PROTEIN CHANGE

p.Thr66del

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	0.84522	Polymorphism

DBSNP ID

1 combination linked to MYD88:c.196_198delGGA, p.Thr66del

1 disease linked to MYD88:c.196_198delGGA, p.Thr66del

Primary immunodeficiency

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