Variant #0000352400 (NC_000014.8:g.77787070_77787073del, NM_013382.5:c.-47_-44del (POMT2))
| Individual ID |
00152471 |
| Chromosome |
14 |
| Allele |
Paternal (confirmed) |
| 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.77787070_77787073del |
| DNA change (hg38) |
g.77320727_77320730del |
| Published as |
1-46_49delCAGA |
| ISCN |
- |
| DB-ID |
POMT2_000041 See all 2 reported entries |
| Variant remarks |
- |
| Reference |
PubMed: Manya 2008 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| 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 |
2008-02-08 10:20:36 +01:00 (CET) |
| Date last edited |
2020-07-05 16:20:40 +02:00 (CEST) |

Variant on transcripts
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