Variant #0000181981 (NC_000018.9:g.52899740_52946887del, TCF4(NM_001083962.1):c.550-?_1649+?del)
Individual ID |
00112682 |
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.52899740_52946887del |
DNA change (hg38) |
g.55232509_55279656del |
Published as |
del ex9-17 |
ISCN |
- |
DB-ID |
TCF4_000072 |
Variant remarks |
76 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 (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Irina Giurgea |

Variant on transcripts
Screenings
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