Variant #0000909349 (NC_000017.10:g.18035776G>A, NM_016239.3:c.4216G>A (MYO15A))
Individual ID |
00428323 |
Chromosome |
17 |
Allele |
Paternal (inferred) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.18035776G>A |
DNA change (hg38) |
g.18132462G>A |
Published as |
- |
ISCN |
- |
DB-ID |
MYO15A_000415 |
Variant remarks |
- |
Reference |
PubMed: Wonkam 2022 |
ClinVar ID |
- |
dbSNP ID |
rs759810756 |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
1.0E-5 View details |
Owner |
Yacouba Dia |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Yacouba Dia |
Date created |
2022-12-31 15:02:18 +01:00 (CET) |
Date last edited |
2023-01-05 09:58:21 +01:00 (CET) |

Variant on transcripts
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