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Details for INPP5E:c.532G>A, p.Val178Met

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
139333340	136438888

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.532G>A

PROTEIN CHANGE

p.Val178Met

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
6.75e-05	0.0	3.494e-05	0.0	0.0	0.0	0.0001238	0.0004034	0.0

ESP
AA	EA
0.0	0.0001205

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.049187	Polymorphism

DBSNP ID

1 combination linked to INPP5E:c.532G>A, p.Val178Met

1 disease linked to INPP5E:c.532G>A, p.Val178Met

Bardet-Biedl syndrome

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