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Details for SLC26A4:p.Tyr78His

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
107303808	107663363

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Tyr78His

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
1.193e-05	0.0	0.0	0.0	0.0	0.0	1.758e-05	0.0001629	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.863016	Disease causing

DBSNP ID

1 combination linked to SLC26A4:p.Tyr78His

1 disease linked to SLC26A4:p.Tyr78His

Congenital hypothyroidism

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