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Details for PHLDB1:c.2603G>A, p.Arg868His

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
118509676	118638958

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2603G>A

PROTEIN CHANGE

p.Arg868His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0098	0.0	0.0	0.0397	0.0	0.0092

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.004595	0.0	8.71e-05	0.001197	0.05044	0.0006505	0.0001415	0.00164	0.005542

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	3.038884	Polymorphism

DBSNP ID

1 combination linked to PHLDB1:c.2603G>A, p.Arg868His

1 disease linked to PHLDB1:c.2603G>A, p.Arg868His

Bardet-Biedl syndrome

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