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Details for BBS1:p.Met242ArgfsTer83

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
None	None

VARIANT EFFECT

frameshift

ANNOTATION FLAG

not_found_in_databases

GENE

REFERENCE ALLELE

None

ALTERNATE ALLELE

None

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Met242ArgfsTer83

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	None	None

DBSNP ID

2 combinations linked to BBS1:p.Met242ArgfsTer83

OLI088; OLI1118

1 disease linked to BBS1:p.Met242ArgfsTer83

Bardet-Biedl syndrome

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