Variant #0000181980 (NC_000018.9:g.52921728_52946887del, TCF4(NM_001083962.1):c.550-?_1350+?del)

Individual ID 00112681
Chromosome 18
Allele Parent #1
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.52921728_52946887del
DNA change (hg38) g.55254497_55279656del
Published as del ex9-15
ISCN -
DB-ID TCF4_000071
Variant remarks 64 Kb deletion
Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message.
Reference PubMed: Rosenfeld 2009
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Irina Giurgea
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
TCF4 NM_001083962.1 +/. 8i_15i c.550-?_1350+?del - r.del p.del



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000113139 DNA SEQ - - TCF4 1 Irina Giurgea