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Details for TSHR:c.733G>A, p.Gly245Ser

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
81606063	81139719

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.733G>A

PROTEIN CHANGE

p.Gly245Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.002	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
8.748e-05	0.0	0.0	0.0	0.001142	0.0	0.0	0.0	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.17787	Disease causing

DBSNP ID

1 combination linked to TSHR:c.733G>A, p.Gly245Ser

1 disease linked to TSHR:c.733G>A, p.Gly245Ser

Congenital hypothyroidism

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