Details for CTH:c.200C>T, p.Thr67Ile

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
7088167070415987
VARIANT EFFECT missense
ANNOTATION FLAG manually_corrected
GENE CTH
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001902.6
CDNA CHANGE c.200C>T
PROTEIN CHANGE p.Thr67Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00260.00.00.00.01090.002

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0064760.0014170.0076610.010220.00.0031880.0093650.0086490.001633

ESP
AAEA
0.0024970.01081
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging4.02111Disease causing
DBSNP ID rs2894178
1 combination linked to CTH:c.200C>T, p.Thr67Ile OLI718
1 disease linked to CTH:c.200C>T, p.Thr67Ile Isolated anencephaly
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