Variant #0000302690 (NC_000015.9:g.59523988G>A, NM_004998.3:c.423C>T (MYO1E))
Chromosome |
15 |
Allele |
Unknown |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.59523988G>A |
DNA change (hg38) |
g.59231789G>A |
Published as |
MYO1E(NM_004998.3):c.423C>T (p.H141=) |
ISCN |
- |
DB-ID |
MYO1E_000013 |
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) |
0.00012 View details |
Owner |
VKGL-NL_Rotterdam |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Rotterdam |
Date created |
2018-01-15 20:58:59 +01:00 (CET) |
Date last edited |
2020-07-06 15:14:44 +02:00 (CEST) |

Variant on transcripts
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