Variant #0000018080 (NC_000021.8:g.34011412G>A, NM_203446.2:c.3838C>T (SYNJ1))
| Individual ID |
00001237 |
| Chromosome |
21 |
| Allele |
Unknown |
| Affects function (as reported) |
Effect unknown |
| Affects function (by curator) |
Effect unknown |
| Classification method |
- |
| Clinical classification |
VUS |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.34011412G>A |
| DNA change (hg38) |
g.32639102G>A |
| Published as |
- |
| ISCN |
- |
| DB-ID |
SYNJ1_000006 See all 3 reported entries |
| Variant remarks |
- |
| Reference |
PubMed: Quadri 2013 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
0.07233 View details |
| Owner |
Marialuisa Quadri |
| Database submission license |
No license selected |
| Created by |
Marialuisa Quadri |
| Date created |
2013-06-09 13:59:13 +02:00 (CEST) |
| Date last edited |
2025-01-11 14:33:30 +01:00 (CET) |

Variant on transcripts
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