This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for IFT27:c.316G>A, p.Ala106Thr

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
37159996	36763952

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.316G>A

PROTEIN CHANGE

p.Ala106Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.002	0.0	0.0	0.0	0.0	0.0102

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0003857	6.153e-05	2.891e-05	0.0	5.437e-05	0.0	2.637e-05	0.0003258	0.002907

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.994206	Polymorphism

DBSNP ID

1 combination linked to IFT27:c.316G>A, p.Ala106Thr

1 disease linked to IFT27:c.316G>A, p.Ala106Thr

Bardet-Biedl syndrome

Found any issues with the data on this page? Report this entry.