Variant #0000181952 (NC_000018.9:g.?, TCF4(NM_001083962.1):c.(?_-1)_(*1_?)del)
Individual ID |
00112653 |
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.? |
DNA change (hg38) |
- |
Published as |
del 18q21.1-q22.3 |
ISCN |
- |
DB-ID |
TCF4_000000 See all 24 reported entries |
Variant remarks |
>13 Mb deletion |
Reference |
Gustavsson |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
De novo |
Segregation |
- |
Frequency |
- |
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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