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Details for TSHR:c.1516G>A, p.Glu506Lys

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
81609918	81143574

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1516G>A

PROTEIN CHANGE

p.Glu506Lys

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
3.986e-06	0.0	0.0	0.0	0.0	0.0	8.795e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.637429	Disease causing

DBSNP ID

1 combination linked to TSHR:c.1516G>A, p.Glu506Lys

1 disease linked to TSHR:c.1516G>A, p.Glu506Lys

Congenital hypothyroidism

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