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Details for KCNJ10:c.1042C>T, p.Arg348Cys

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
160011281	160041491

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1042C>T

PROTEIN CHANGE

p.Arg348Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0	0.002	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.000183	0.0	0.0	0.0	0.001523	0.0	7.036e-05	0.0	0.0003267

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	2.580267	Disease causing

DBSNP ID

1 combination linked to KCNJ10:c.1042C>T, p.Arg348Cys

1 disease linked to KCNJ10:c.1042C>T, p.Arg348Cys

Pendred syndrome

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