Variant #0000181983 (NC_000018.9:g.52946780_52946781dup, TCF4(NM_001083962.1):c.655+1_655+2dup)
Individual ID |
00112684 |
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.52946780_52946781dup |
DNA change (hg38) |
g.55279549_55279550dup |
Published as |
IVS9+2insGT |
ISCN |
- |
DB-ID |
TCF4_000078 |
Variant remarks |
- |
Reference |
PubMed: Zweier 2008 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
De novo |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Irina Giurgea |

Variant on transcripts
Screenings
|
|