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Details for SDCCAG8:c.1531C>A, p.Gln511Lys

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
243542080	243378778

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1531C>A

PROTEIN CHANGE

p.Gln511Lys

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
3.98e-06	0.0	0.0	0.0	0.0	0.0	0.0	0.0	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.997862	Polymorphism

DBSNP ID

1 combination linked to SDCCAG8:c.1531C>A, p.Gln511Lys

1 disease linked to SDCCAG8:c.1531C>A, p.Gln511Lys

Bardet-Biedl syndrome

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