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Details for BBS12:c.1115_1116delTT, p.Phe372Ter

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
123664160	122743005

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

ATT

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1115_1116delTT

PROTEIN CHANGE

p.Phe372Ter

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	4.949769	Disease causing

DBSNP ID

1 combination linked to BBS12:c.1115_1116delTT, p.Phe372Ter

1 disease linked to BBS12:c.1115_1116delTT, p.Phe372Ter

Bardet-Biedl syndrome

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