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Details for TSHZ1:c.2264G>A, p.Arg755His

CHROMOSOME

18

GENOMIC COORDINATES

hg19	hg38
72999761	75287806

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2264G>A

PROTEIN CHANGE

p.Arg755His

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
2.788e-05	6.171e-05	0.0	0.0	0.0	0.0	4.405e-05	0.0	3.266e-05

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.688239	Polymorphism

DBSNP ID

1 combination linked to TSHZ1:c.2264G>A, p.Arg755His

1 disease linked to TSHZ1:c.2264G>A, p.Arg755His

Non-acquired combined pituitary hormone deficiency

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