Details for CELSR1:c.3544+23292_23323del,

CHROMOSOME 22
GENOMIC COORDINATES
hg19hg38
NoneNone
VARIANT EFFECT None
ANNOTATION FLAG None
GENE CELSR1
REFERENCE ALLELE None
ALTERNATE ALLELE None
TRANSCRIPT N.A.
CDNA CHANGE c.3544+23292_23323del
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
--None-
DBSNP ID NA
1 combination linked to CELSR1:c.3544+23292_23323del, OLI1477
1 disease linked to CELSR1:c.3544+23292_23323del, Hypoplastic left heart syndrome
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