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Details for TSHR:c.1574T>C, p.Phe525Ser

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
81609976	81143632

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

ENST00000298171.7

CDNA CHANGE

c.1574T>C

PROTEIN CHANGE

p.Phe525Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.001	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001393	0.0	0.0	0.0	0.001795	0.0	0.0	0.0	6.533e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.399126	Disease causing

DBSNP ID

5 combinations linked to TSHR:c.1574T>C, p.Phe525Ser

OLI1075; OLI1174; OLI1175; OLI1806; OLI987

1 disease linked to TSHR:c.1574T>C, p.Phe525Ser

Congenital hypothyroidism

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