Variant #0000352211 (NC_000009.11:g.134395562G>C, NM_007171.3:c.1746G>C (POMT1))
Individual ID |
00152348 |
Chromosome |
9 |
Allele |
Parent #2 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.134395562G>C |
DNA change (hg38) |
g.131520175G>C |
Published as |
- |
ISCN |
- |
DB-ID |
POMT1_000017 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: van Reeuwijk 2006, PubMed: Manya 2008, PubMed: Messina 2008, PubMed: Mercuri 2009, OMIM:var0007 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Rosário dos Santos |
Database submission license |
No license selected |
Created by |
Rosário dos Santos |
Date created |
2008-06-06 18:42:22 +02:00 (CEST) |
Date last edited |
2018-02-05 18:52:04 +01:00 (CET) |

Variant on transcripts
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