Details for TTC21B:c.2258C>T, p.Pro753Leu

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
166769088165912578
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TTC21B
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_024753.5
CDNA CHANGE c.2258C>T
PROTEIN CHANGE p.Pro753Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00520.00.00.00.00.0266

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0017076.153e-050.00014459.923e-050.00.02.639e-050.0011420.01346

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.835924Polymorphism
DBSNP ID NA
1 combination linked to TTC21B:c.2258C>T, p.Pro753Leu OLI1741
1 disease linked to TTC21B:c.2258C>T, p.Pro753Leu Congenital hydrocephalus
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