We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for TSHR:c.2098A>G, p.Lys700Gly

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
81610500	81144156

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.2098A>G

PROTEIN CHANGE

p.Lys700Gly

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.001	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001114	0.0	0.0	0.0	0.001522	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.95072	Disease causing

DBSNP ID

1 combination linked to TSHR:c.2098A>G, p.Lys700Gly

1 disease linked to TSHR:c.2098A>G, p.Lys700Gly

Found any issues with the data on this page? Report this entry.