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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