Genomic variant #0000314463

Chromosome 18
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.53252499G>T
DNA change (hg38) -
Published as TCF4(NM_001083962.1):c.145+12C>A
ISCN -
DB-ID TCF4_000130
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     
TCF4 NM_001083962.1 -?/. - c.145+12C>A - likely benign r.(=) p.(=)