Variant #0000086642 (NC_000011.9:g.17741517C>A, NM_002478.4:c.188C>A (MYOD1))
Individual ID |
00056440 |
Chromosome |
11 |
Allele |
Both (homozygous) |
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.17741517C>A |
DNA change (hg38) |
g.17719970C>A |
Published as |
- |
ISCN |
- |
DB-ID |
MYOD1_000001 See all 3 reported entries |
Variant remarks |
- |
Reference |
PubMed: Watson 2016, Journal: Watson 2016 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Christopher Watson |
Database submission license |
No license selected |
Created by |
Christopher Watson |
Date created |
2016-01-08 15:42:12 +01:00 (CET) |
Date last edited |
2016-01-09 02:50:43 +01:00 (CET) |

Variant on transcripts
Screenings
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