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Details for KCNJ10:c.581C, p.Pro194His

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
160011742	160041952

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.581C

PROTEIN CHANGE

p.Pro194His

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
4.026e-06	0.0	0.0	0.0	0.0	0.0	8.905e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.076292	Disease causing

DBSNP ID

1 combination linked to KCNJ10:c.581C, p.Pro194His

1 disease linked to KCNJ10:c.581C, p.Pro194His

Pendred syndrome

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