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Details for BBS2:c.311A>C, p.Asp104Ala

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
56548399	56514487

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.311A>C

PROTEIN CHANGE

p.Asp104Ala

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
4.374e-05	0.0	0.0	0.0009921	0.0	0.0	8.792e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.881419	Disease causing

DBSNP ID

2 combinations linked to BBS2:c.311A>C, p.Asp104Ala

1 disease linked to BBS2:c.311A>C, p.Asp104Ala

Bardet-Biedl syndrome

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