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
Screenings
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