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Details for TSHR:c.1060G>A, p.Val354Ile

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
81609462	81143118

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1060G>A

PROTEIN CHANGE

p.Val354Ile

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
4.772e-05	0.0	5.782e-05	9.923e-05	5.437e-05	0.0	7.032e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.176135	Polymorphism

DBSNP ID

1 combination linked to TSHR:c.1060G>A, p.Val354Ile

1 disease linked to TSHR:c.1060G>A, p.Val354Ile

Congenital hypothyroidism

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