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Details for BBS10:c.1677C>A, p.Tyr559Ter

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
76740088	76346308

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1677C>A

PROTEIN CHANGE

p.Tyr559Ter

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
5.0	0.0	0.0	0.0	0.0	0.0	5.0	5.0	0.0

ESP
AA	EA
0.0	6.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	5.306683	Disease causing

DBSNP ID

1 combination linked to BBS10:c.1677C>A, p.Tyr559Ter

2 diseases linked to BBS10:c.1677C>A, p.Tyr559Ter

Alström syndrome; Bardet-Biedl syndrome

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