Variant #0000991407 (NC_000001.10:g.74670359C>T, NM_015978.2:c.-30777C>T (TNNI3K))
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.74670359C>T |
DNA change (hg38) |
- |
Published as |
FPGT(NM_003838.4):c.667C>T (p.(Pro223Ser)) |
ISCN |
- |
DB-ID |
FPGT-TNNI3K_000172 |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00123 View details |
Owner |
VKGL-NL_Leiden |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Leiden |
Date created |
2024-08-28 13:07:21 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
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