Variant #0000352432 (NC_000014.8:g.77786772C>G, NC_000014.8(NM_013382.5):c.248+5G>C (POMT2))
| Individual ID |
00152488 |
| Chromosome |
14 |
| 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.77786772C>G |
| DNA change (hg38) |
g.77320429C>G |
| Published as |
- |
| ISCN |
- |
| DB-ID |
POMT2_000062 |
| Variant remarks |
- |
| Reference |
PubMed: Yanagisawa 2009 |
| 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 |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2009-02-27 14:46:24 +01:00 (CET) |
| Date last edited |
2012-11-02 20:43:02 +01:00 (CET) |

Variant on transcripts
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