Variant #0000181956 (NC_000018.9:g.(52000000_52895125)_(62258013_63000000)del, TCF4(NM_001083962.1):c.(?_-1)_(*1_?)del)
Individual ID |
00112657 |
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.(52000000_52895125)_(62258013_63000000)del |
DNA change (hg38) |
- |
Published as |
hg18? g.51046123-60408993del |
ISCN |
18q21.2-q22.1del |
DB-ID |
TCF4_000016 |
Variant remarks |
9.36 Mb deletion |
Reference |
PubMed: Giurgea 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
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