Details for BBS7:c.1372-1G>C,

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
122756439121835284
VARIANT EFFECT None
ANNOTATION FLAG None
GENE BBS7
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_176824.3
CDNA CHANGE c.1372-1G>C
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone6.064421Disease causing
DBSNP ID NA
1 combination linked to BBS7:c.1372-1G>C, OLI1451
1 disease linked to BBS7:c.1372-1G>C, Bardet-Biedl syndrome
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