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Details for SDCCAG8:c.278C>T, p.Pro93Leu

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
243434337	243271035

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.278C>T

PROTEIN CHANGE

p.Pro93Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0016	0.0	0.0014	0.0	0.002	0.0051

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.00101	0.0002461	0.000636	0.0	0.0001087	0.0	0.001328	0.0008157	0.002287

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	3.117964	Polymorphism

DBSNP ID

1 combination linked to SDCCAG8:c.278C>T, p.Pro93Leu

1 disease linked to SDCCAG8:c.278C>T, p.Pro93Leu

Bardet-Biedl syndrome

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