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 CORO2B:c.386C>T, p.Ala129Val

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
69003123	68710784

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.386C>T

PROTEIN CHANGE

p.Ala129Val

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
4.066e-06	0.0	0.0	0.0	0.0	4.806e-05	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.032563	Polymorphism

DBSNP ID

1 combination linked to CORO2B:c.386C>T, p.Ala129Val

1 disease linked to CORO2B:c.386C>T, p.Ala129Val

Bardet-Biedl syndrome

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