Variant #0000181971 (NC_000018.9:g.53070685_53131368del, TCF4(NM_001083962.1):c.146-?_369+?del)

Individual ID 00112672
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.53070685_53131368del
DNA change (hg38) g.55403454_55464137del
Published as del ex4-6
ISCN -
DB-ID TCF4_000068
Variant remarks 159 Kb deletion
Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message.
Reference -
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 +/. 3i_6i c.146-?_369+?del - r.del p.del



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000113130 DNA SEQ - - TCF4 1 Irina Giurgea