Variant #0000442882 (NC_000005.9:g.137206519C>T, MYOT(NM_006790.2):c.179C>T)
Individual ID |
00210321 |
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.137206519C>T |
DNA change (hg38) |
g.137870830C>T |
Published as |
- |
ISCN |
- |
DB-ID |
MYOT_000008 See all 27 reported entries |
Variant remarks |
unrelated patients |
Reference |
PubMed: McNeill 2009 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
4.0E-5 View details |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2009-12-31 16:05:02 +01:00 (CET) |
Date last edited |
2018-12-27 19:20:04 +01:00 (CET) |

Variant on transcripts
Screenings
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