Variant #0000629618 (NC_000009.11:g.36249267A>G, NM_001128227.2:c.179T>C (GNE))
Individual ID |
00274409 |
Chromosome |
9 |
Allele |
Parent #1 |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.36249267A>G |
DNA change (hg38) |
g.36249270A>G |
Published as |
- |
ISCN |
- |
DB-ID |
GNE_000017 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Park 2017 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
1/209 cases |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2019-12-30 09:59:36 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
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