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Details for BBS7:c.896_897delAA, p.Lys299ArgfsTer4

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
122770035	121848880

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

CTT

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.896_897delAA

PROTEIN CHANGE

p.Lys299ArgfsTer4

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	4.370991	Disease causing

DBSNP ID

1 combination linked to BBS7:c.896_897delAA, p.Lys299ArgfsTer4

1 disease linked to BBS7:c.896_897delAA, p.Lys299ArgfsTer4

Bardet-Biedl syndrome

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