Variant #0000683354 (NC_000018.9:g.53017634G>A, TCF4(NM_001083962.1):c.505C>T)

Individual ID 00307780
Chromosome 18
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.53017634G>A
DNA change (hg38) g.55350403G>A
Published as -
ISCN -
DB-ID TCF4_000104 See all 2 reported entries
Variant remarks -
Reference PubMed: Grozeva 2015, Journal: Grozeva 2015
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
TCF4 NM_001083962.1 +?/. - c.505C>T - r.(?) p.(Gln169*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000308920 DNA SEQ;SEQ-NG - 565 gene panel TCF4 1 Johan den Dunnen