Variant #0000195758 (NC_000018.9:g.52946888C>T, TCF4(NM_001083962.1):c.550-1G>A)
Individual ID |
00119157 |
Chromosome |
18 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Probably affects function |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.52946888C>T |
DNA change (hg38) |
g.55279657C>T |
Published as |
- |
ISCN |
- |
DB-ID |
TCF4_000105 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Grozeva 2015 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
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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