Variant #0000169358 (NC_000009.11:g.117838746G>T, NM_002160.3:c.2783C>A (TNC))
Individual ID |
00104018 |
Chromosome |
9 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.117838746G>T |
DNA change (hg38) |
g.115076467G>T |
Published as |
NM_002160.3(TNC):c.2783C>A p.(Ala928Asp) |
ISCN |
- |
DB-ID |
TNC_000002 |
Variant remarks |
variant could not be associated with disease phenotype |
Reference |
PubMed: Vogelaar 2017, Journal: Vogelaar 2017 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Marjolijn JL Ligtenberg |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2017-04-28 08:15:46 +02:00 (CEST) |
Date last edited |
2019-03-01 00:54:00 +01:00 (CET) |

Variant on transcripts
Screenings
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