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Details for TSHR:c.692+1_692+4delGTGA,

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
81574796	81108452

VARIANT EFFECT

splicing

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

TGTGA

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.692+1_692+4delGTGA

PROTEIN CHANGE

None

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
2.785e-05	0.0	0.0	0.0	0.0	0.0	6.156e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	3.051952	Disease causing

DBSNP ID

1 combination linked to TSHR:c.692+1_692+4delGTGA,

1 disease linked to TSHR:c.692+1_692+4delGTGA,

Congenital hypothyroidism

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