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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