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Details for TSHR:c.326G>A, p.Arg109Gln

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
81554306	81087962

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.326G>A

PROTEIN CHANGE

p.Arg109Gln

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
1.989e-05	6.152e-05	0.0	0.0	0.0	0.0	3.518e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.775512	Disease causing

DBSNP ID

1 combination linked to TSHR:c.326G>A, p.Arg109Gln

1 disease linked to TSHR:c.326G>A, p.Arg109Gln

Congenital hypothyroidism

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