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Details for URB1:c.5084C>G, p.Ser1695Leu

CHROMOSOME

21

GENOMIC COORDINATES

hg19	hg38
33697576	32325266

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.5084C>G

PROTEIN CHANGE

p.Ser1695Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0026	0.0	0.0029	0.0	0.006	0.0051

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.006906	0.001137	0.001986	0.004119	0.0	0.01034	0.01042	0.004328	0.007201

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.510313	Polymorphism

DBSNP ID

1 combination linked to URB1:c.5084C>G, p.Ser1695Leu

1 disease linked to URB1:c.5084C>G, p.Ser1695Leu

Congenital hypothyroidism

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