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Details for IFT172:c.2015G>A, p.Arg672Gln

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
27685971	27463104

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2015G>A

PROTEIN CHANGE

p.Arg672Gln

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
0.0005449	6.152e-05	0.0001735	0.0	0.0	9.24e-05	0.001117	0.0001629	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.255567	Polymorphism

DBSNP ID

1 combination linked to IFT172:c.2015G>A, p.Arg672Gln

1 disease linked to IFT172:c.2015G>A, p.Arg672Gln

Bardet-Biedl syndrome

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