Variant #0000442867 (NC_000005.9:g.137206456C>T, MYOT(NM_006790.2):c.116C>T)
Individual ID |
00210306 |
Chromosome |
5 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (dominant) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.137206456C>T |
DNA change (hg38) |
g.137870767C>T |
Published as |
- |
ISCN |
- |
DB-ID |
MYOT_000011 See all 3 reported entries |
Variant remarks |
control chromosomes |
Reference |
PubMed: Foroud 2005, OMIM:var0006 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
0/270 |
Re-site |
BbsI- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2006-02-19 16:48:50 +01:00 (CET) |
Date last edited |
2018-12-27 19:20:04 +01:00 (CET) |

Variant on transcripts
Screenings
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