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Details for TG:p.Arg2585Trp

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
134125846	133113602

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Arg2585Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0014	0.0	0.0	0.0069	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0004991	0.0004322	8.699e-05	0.0	0.005136	0.0	9.722e-05	0.0004899	0.0002293

ESP
AA	EA
0.0006809	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.792371	Polymorphism

DBSNP ID

1 combination linked to TG:p.Arg2585Trp

1 disease linked to TG:p.Arg2585Trp

Congenital hypothyroidism

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