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Details for TSHR:c.2272G>A, p.Glu758Lys

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
81610674	81144330

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2272G>A

PROTEIN CHANGE

p.Glu758Lys

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
2.784e-05	0.0	0.0	0.0	0.0003262	0.0	0.0	0.0	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.98127	Disease causing

DBSNP ID

1 combination linked to TSHR:c.2272G>A, p.Glu758Lys

1 disease linked to TSHR:c.2272G>A, p.Glu758Lys

Congenital hypothyroidism

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