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 BBS10:p.Leu55Pro

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
76741975	76348195

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Leu55Pro

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.301045	Disease causing

DBSNP ID

1 combination linked to BBS10:p.Leu55Pro

3 diseases linked to BBS10:p.Leu55Pro

Alström syndrome; McKusick-Kaufman syndrome; Bardet-Biedl syndrome

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