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Details for SLC26A4:c.919-2A>G,

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
107323898	107683453

VARIANT EFFECT

splicing

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.919-2A>G

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
0.0003586	0.0	0.0	0.0	0.004786	0.0	1.763e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	5.579128	Disease causing

DBSNP ID

3 combinations linked to SLC26A4:c.919-2A>G,

OLI1086; OLI1488; OLI241

2 diseases linked to SLC26A4:c.919-2A>G,

Pendred syndrome; Congenital hypothyroidism

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