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Details for TG:c.4859C>T, p.Thr1620Met

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
133945848	132933603

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.4859C>T

PROTEIN CHANGE

p.Thr1620Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0022	0.0	0.0	0.0109	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001241	6.152e-05	0.0	9.921e-05	0.01647	0.0	8.791e-06	0.0003257	0.0001307

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.347215	Polymorphism

DBSNP ID

2 combinations linked to TG:c.4859C>T, p.Thr1620Met

OLI1082; OLI1500

1 disease linked to TG:c.4859C>T, p.Thr1620Met

Congenital hypothyroidism

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