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Details for BBS10:c.1335_1338del, p.Tyr448ArgfsTer39

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
76740426	76346646

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

TAAAA

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1335_1338del

PROTEIN CHANGE

p.Tyr448ArgfsTer39

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
None	None	2.712736	Disease causing

DBSNP ID

1 combination linked to BBS10:c.1335_1338del, p.Tyr448ArgfsTer39

1 disease linked to BBS10:c.1335_1338del, p.Tyr448ArgfsTer39

Bardet-Biedl syndrome

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