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Details for IFT172:c.4363C>T, p.Arg1455Trp

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
27671847	27448980

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.4363C>T

PROTEIN CHANGE

p.Arg1455Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0029	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0003022	6.152e-05	8.673e-05	0.0	0.0003262	4.619e-05	0.0005625	0.0001629	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	4.039559	Disease causing

DBSNP ID

1 combination linked to IFT172:c.4363C>T, p.Arg1455Trp

1 disease linked to IFT172:c.4363C>T, p.Arg1455Trp

Bardet-Biedl syndrome

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