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Details for IFT172:c.3073C>G, p.Pro1025Ala

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
27680746	27457879

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.3073C>G

PROTEIN CHANGE

p.Pro1025Ala

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0024	0.0068	0.0029	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0013	0.003752	0.001099	0.01677	0.0	0.0	0.0003956	0.00228	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.711562	Polymorphism

DBSNP ID

1 combination linked to IFT172:c.3073C>G, p.Pro1025Ala

1 disease linked to IFT172:c.3073C>G, p.Pro1025Ala

Bardet-Biedl syndrome

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