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Details for IFT172:c.3808A>C, p.Lys1270Gln

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
27676510	27453643

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.3808A>C

PROTEIN CHANGE

p.Lys1270Gln

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
4.816e-05	0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0003949

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.253938	Polymorphism

DBSNP ID

1 combination linked to IFT172:c.3808A>C, p.Lys1270Gln

1 disease linked to IFT172:c.3808A>C, p.Lys1270Gln

Bardet-Biedl syndrome

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