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Details for BBS7:c.87_88delCA, p.His29GlnfsTer12

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
122789149	121867994

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

CTG

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.87_88delCA

PROTEIN CHANGE

p.His29GlnfsTer12

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	3.852421	Disease causing

DBSNP ID

1 combination linked to BBS7:c.87_88delCA, p.His29GlnfsTer12

1 disease linked to BBS7:c.87_88delCA, p.His29GlnfsTer12

Bardet-Biedl syndrome

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