Variant #0000358084 (NC_000018.9:g.53210302=, TCF4(NM_001083962.1):c.145+42209=)

Individual ID 00155307
Chromosome 18
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.53210302=
DNA change (hg38) g.55543071=
Published as rs613872 G
ISCN -
DB-ID TCF4_000151 See all 6 reported entries
Variant remarks -
Reference PubMed: Mootha 2014
ClinVar ID -
dbSNP ID rs613872
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
TCF4 NM_001083962.1 -/. 3i c.145+42209= - r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000156171 DNA PCRrp - - TCF4 3 Johan den Dunnen