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Details for SLC26A4:c.1226G>A, p.Arg409His

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
107330645	107690200

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1226G>A

PROTEIN CHANGE

p.Arg409His

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
9.967e-05	0.0	0.0002025	0.0	0.0	0.0	0.0001325	0.0	9.799e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.31198	Disease causing

DBSNP ID

2 combinations linked to SLC26A4:c.1226G>A, p.Arg409His

OLI1075; OLI1495

1 disease linked to SLC26A4:c.1226G>A, p.Arg409His

Congenital hypothyroidism

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