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Details for USH1C:c.1823C>G, p.Pro608Arg

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
17531093	17509546

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.1823C>G

PROTEIN CHANGE

p.Pro608Arg

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
0.0004859	0.0001311	0.00044	0.0004165	0.0	0.0	0.0008185	0.0003399	0.0001722

ESP
AA	EA
0.0002273	0.0008155

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	2.929488	Polymorphism

DBSNP ID

1 combination linked to USH1C:c.1823C>G, p.Pro608Arg

2 diseases linked to USH1C:c.1823C>G, p.Pro608Arg

Meniere Disease; Atypical hemolytic uremic syndrome

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