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Details for BBS10:c.1241T>C, p.Leu414Ser

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
76740524	76346744

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1241T>C

PROTEIN CHANGE

p.Leu414Ser

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
3.979e-06	0.0	0.0	0.0	0.0	0.0	8.802e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.964238	Disease causing

DBSNP ID

1 combination linked to BBS10:c.1241T>C, p.Leu414Ser

1 disease linked to BBS10:c.1241T>C, p.Leu414Ser

Bardet-Biedl syndrome

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