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Details for TSHR:c.2252A>G, p.Lys751Arg

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
81610654	81144310

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.2252A>G

PROTEIN CHANGE

p.Lys751Arg

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
9.148e-05	0.0	0.0	0.001091	0.0003262	0.0	3.517e-05	0.0003259	0.0

ESP
AA	EA
0.0	0.0002326

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.25705	Disease causing

DBSNP ID

2 combinations linked to TSHR:c.2252A>G, p.Lys751Arg

OLI1081; OLI1499

1 disease linked to TSHR:c.2252A>G, p.Lys751Arg

Congenital hypothyroidism

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