Details for TCTN3:p.Asn512Ser

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
9744028495680527
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TCTN3
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Asn512Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.41167Polymorphism
DBSNP ID rs1467934912
1 combination linked to TCTN3:p.Asn512Ser OLI687
1 disease linked to TCTN3:p.Asn512Ser Holoprosencephaly
Found any issues with the data on this page? Report this entry.