Variant #0000726160 (NC_000017.10:g.10439901del, NM_017534.5:c.1920del (MYH2))
Chromosome |
17 |
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.10439901del |
DNA change (hg38) |
- |
Published as |
MYH2(NM_001100112.2):c.1920delG (p.G642Vfs*20) |
ISCN |
- |
DB-ID |
MYH2_000041 See all 2 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) |
0 View details |
Owner |
VKGL-NL_VUmc |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_VUmc |
Date created |
2021-02-08 18:36:18 +01:00 (CET) |
Date last edited |
2023-01-11 15:44:22 +01:00 (CET) |

Variant on transcripts
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