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Details for BBS7:c.1235A>G, p.Asp412Gly

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
122765152	121843997

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.1235A>G

PROTEIN CHANGE

p.Asp412Gly

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0014	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001489	0.0005668	0.001045	0.004411	0.0	9.713e-05	0.002408	0.0008875	0.0003956

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	4.197742	Polymorphism

DBSNP ID

1 combination linked to BBS7:c.1235A>G, p.Asp412Gly

1 disease linked to BBS7:c.1235A>G, p.Asp412Gly

Bardet-Biedl syndrome

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