Variant #0000358091 (NC_000018.9:g.53253330_5325347[ins(81_?)], TCF4(NM_001083962.1):c.72+804_73-747[ins(81_?)])
Individual ID |
00155310 |
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.53253330_5325347[ins(81_?)] |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
TCF4_000000 See all 24 reported entries |
Variant remarks |
18/344 cases are homozygous; >76-fold increased risk |
Reference |
PubMed: Zarouchlioti 2018 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
344/450 cases FECD |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Genomic location of variant could not be determined |
Owner |
Johan den Dunnen |
Variant on transcripts
Screenings
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