Variant #0000734023 (NC_000017.10:g.73832719C>T, UNC13D(NM_199242.2):c.1232G>A)
Individual ID |
00334310 |
Chromosome |
17 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.73832719C>T |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
UNC13D_000087 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Luo 2021, Journal: Luo 2021 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00056 View details |
Owner |
Liu Wenbing |
Database submission license |
No license selected |
Created by |
Liu Wenbing |

Variant on transcripts
Screenings
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