Variant #0000128442 (NC_000006.11:g.152453291G>A, NM_182961.3:c.26060C>T (SYNE1))
Individual ID |
00079621 |
Chromosome |
6 |
Allele |
Parent #1 |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.152453291G>A |
DNA change (hg38) |
g.152132156G>A |
Published as |
g.496176C>T (T8639I) |
ISCN |
- |
DB-ID |
SYNE1_000018 See all 3 reported entries |
Variant remarks |
transgenics mouse, deleted last exon |
Reference |
PubMed: Gros-Louis 2007 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.05102 View details |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2009-12-28 11:56:10 +01:00 (CET) |
Date last edited |
2012-11-02 20:43:05 +01:00 (CET) |

Variant on transcripts
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