Variant #0000299873 (NC_000005.9:g.137206519C>T, MYOT(NM_006790.2):c.179C>T)
Chromosome |
5 |
Allele |
Unknown |
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.137206519C>T |
DNA change (hg38) |
g.137870830C>T |
Published as |
MYOT(NM_006790.2):c.179C>T (p.S60F) |
ISCN |
- |
DB-ID |
MYOT_000008 See all 27 reported entries |
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) |
4.0E-5 View details |
Owner |
VKGL-NL_Utrecht |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Utrecht |
Date created |
2018-01-15 20:58:59 +01:00 (CET) |
Date last edited |
2019-12-04 15:24:38 +01:00 (CET) |

Variant on transcripts
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