Variant #0000358082 (NC_000018.9:g.53253385_53253459AGC[12_35], TCF4(NM_001083962.1):c.72+817_73-802GCT[12_35])
Individual ID |
00155306 |
Chromosome |
18 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.53253385_53253459AGC[12_35] |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
TCF4_000000 See all 24 reported entries |
Variant remarks |
- |
Reference |
PubMed: Mootha 2014 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
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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