Variant #0000358089 (NC_000018.9:g.53253330_5325347[ins(51_?)], TCF4(NM_001083962.1):c.72+804_73-747[ins(51_?)])

Individual ID 00155309
Chromosome 18
Allele Both (homozygous)
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.53253330_5325347[ins(51_?)]
DNA change (hg38) -
Published as expanded >40 units
ISCN -
DB-ID TCF4_000150 See all 6 reported entries
Variant remarks -
Reference PubMed: Mootha 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
TCF4 NM_001083962.1 +/. 2i c.72+804_73-747[ins(51_?)] GCT[>40] r.(?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000156173 DNA PCRrp - - TCF4 2 Johan den Dunnen