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Details for BBS10:c.2119_2120del, p.Val707Ter

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
76739644	76345864

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

AAC

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2119_2120del

PROTEIN CHANGE

p.Val707Ter

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
6.369e-05	0.0	0.0	0.0	0.0	0.0	0.0001409	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	4.193234	Disease causing

DBSNP ID

3 combinations linked to BBS10:c.2119_2120del, p.Val707Ter

OLI083; OLI619; OLI621

2 diseases linked to BBS10:c.2119_2120del, p.Val707Ter

Alström syndrome; Bardet-Biedl syndrome

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