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Details for BBS7:c.632C>T, p.Thr211Ile

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
122775945	121854790

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.632C>T

PROTEIN CHANGE

p.Thr211Ile

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
7.958e-06	0.0	0.0	0.0	0.0	0.0	8.799e-06	0.0001632	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.987656	Disease causing

DBSNP ID

2 combinations linked to BBS7:c.632C>T, p.Thr211Ile

1 disease linked to BBS7:c.632C>T, p.Thr211Ile

Bardet-Biedl syndrome

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