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Details for PCDH15:c.5257C>A, p.Pro1706Thr

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
55582250	53822490

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.5257C>A

PROTEIN CHANGE

p.Pro1706Thr

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
1.642e-05	0.0	2.916e-05	0.0	0.0	0.0	2.774e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.509217	Polymorphism

DBSNP ID

1 combination linked to PCDH15:c.5257C>A, p.Pro1706Thr

2 diseases linked to PCDH15:c.5257C>A, p.Pro1706Thr

Meniere Disease; Atypical hemolytic uremic syndrome

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