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
Screenings
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