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Details for UROD:c.652_653insTT, p.Glu218ValfsTer28

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
45480126	45014454

VARIANT EFFECT

frameshift

ANNOTATION FLAG

ambiguous_variant

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

GTT

TRANSCRIPT

CDNA CHANGE

c.652_653insTT

PROTEIN CHANGE

p.Glu218ValfsTer28

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	5.283473	Disease causing

DBSNP ID

1 combination linked to UROD:c.652_653insTT, p.Glu218ValfsTer28

1 disease linked to UROD:c.652_653insTT, p.Glu218ValfsTer28

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