Variant #0000355552 (NC_000011.9:g.1954967G>A, TNNT3(NM_006757.3):c.188G>A)
Individual ID |
00154915 |
Chromosome |
11 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.1954967G>A |
DNA change (hg38) |
g.1933737G>A |
Published as |
- |
ISCN |
- |
DB-ID |
TNNT3_000001 See all 12 reported entries |
Variant remarks |
- |
Reference |
PubMed: Beck 2013 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (large NGS studies) |
Variant not found in online data sets |
Owner |
Johan den Dunnen |

Variant on transcripts
Screenings
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