Details for TMEM67:c.(406+1_407-1)_(*1_?)del,

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
NoneNone
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TMEM67
REFERENCE ALLELE None
ALTERNATE ALLELE None
TRANSCRIPT N.A.
CDNA CHANGE c.(406+1_407-1)_(*1_?)del
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 TMEM67:c.(406+1_407-1)_(*1_?)del, OLI1371
1 disease linked to TMEM67:c.(406+1_407-1)_(*1_?)del, Meckel syndrome
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