Variant #0000088285 (NC_000002.11:g.179510873TA[21_23], NM_001267550.1:c.40298-116TA[21_23] (TTN))
| Individual ID |
00057968 |
| Chromosome |
2 |
| Allele |
Parent #1 |
| 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.179510873TA[21_23] |
| DNA change (hg38) |
g.178646146TA[21_23] |
| Published as |
- |
| ISCN |
- |
| DB-ID |
TTN_006068 |
| Variant remarks |
sequence comparison |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Genomic location of variant could not be determined |
| Owner |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2006-02-10 11:16:43 +01:00 (CET) |
| Date last edited |
2020-05-03 17:32:09 +02:00 (CEST) |
Variant on transcripts
Screenings
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