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Details for SLC26A4:c.765+4A>C,

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
107315558	107675113

VARIANT EFFECT

splicing

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.765+4A>C

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
4.381e-05	0.0	0.0	0.0	0.0	0.0	8.819e-06	0.0001631	0.000294

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	2.591101	None

DBSNP ID

1 combination linked to SLC26A4:c.765+4A>C,

1 disease linked to SLC26A4:c.765+4A>C,

Congenital hypothyroidism

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