Variant #0000338375 (NC_000018.9:g.52946781C>T, TCF4(NM_001083962.1):c.655+1G>A)

Chromosome 18
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.52946781C>T
DNA change (hg38) g.55279550C>T
Published as -
ISCN -
DB-ID TCF4_000146
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Nijmegen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
TCF4 NM_001083962.1 +/. - c.655+1G>A - r.spl? p.?