Variant #0000833158 (NC_000005.9:g.137206519C>T, MYOT(NM_006790.2):c.179C>T)
Individual ID |
00399106 |
Chromosome |
5 |
Allele |
Parent #1 |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
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 |
- |
Reference |
PubMed: Gonzalez-Quereda 2020 |
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 |
2022-01-15 16:40:49 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
Screenings
|
|