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Details for BBS1:c.1169T>G, p.Met390Arg

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
66293652	66526181

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1169T>G

PROTEIN CHANGE

p.Met390Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.001	0.0	0.0043	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001512	0.0004921	0.0008385	0.0	0.0	0.0009241	0.002762	0.001468	0.0

ESP
AA	EA
0.0006818	0.002678

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.720893	Disease causing

DBSNP ID

16 combinations linked to BBS1:c.1169T>G, p.Met390Arg

OLI037; OLI038; OLI039; OLI062; OLI063; OLI064; OLI065; OLI066; OLI088; OLI141; OLI417; OLI618; OLI619; OLI1116; OLI1118; OLI1120

3 diseases linked to BBS1:c.1169T>G, p.Met390Arg

Hirschsprung disease; Bardet-Biedl syndrome; Retinitis pigmentosa

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