Variant #0000355082 (NC_000011.9:g.1862753G>A, NM_003282.3:c.521G>A (TNNI2))
| Individual ID |
00154502 |
| Chromosome |
11 |
| 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.1862753G>A |
| DNA change (hg38) |
g.1841523G>A |
| Published as |
- |
| ISCN |
- |
| DB-ID |
TNNI2_000002 See all 10 reported entries |
| Variant remarks |
1) Sung 2003 found in 2 independent families with DA2B; in one family 521G>A arose de novo and segregated with DA2B in all affected children; 2) Beck 2013 identified a family with Distal arthrogryposis type 1 in affected father and child |
| Reference |
- |
| ClinVar ID |
ClinVar-12435 |
| dbSNP ID |
rs104894311 |
| Origin |
Germline/De novo (untested) |
| Segregation |
? |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Andreas Laner |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Andreas Laner |
| Date created |
2018-03-02 10:48:23 +01:00 (CET) |
| Date last edited |
2021-03-17 14:24:32 +01:00 (CET) |

Variant on transcripts
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