Variant #0000169139 (NC_000007.13:g.(?_73428837)_(73643684_?)del, NM_000501.2:c.0 (ELN))
Individual ID |
00103955 |
Chromosome |
7 |
Allele |
Unknown |
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.(?_73428837)_(73643684_?)del |
DNA change (hg38) |
- |
Published as |
g.73428837_73643684del |
ISCN |
- |
DB-ID |
ELN_000000 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
De novo |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Le Gall |
Database submission license |
No license selected |
Created by |
Le Gall |
Date created |
2017-04-25 11:05:52 +02:00 (CEST) |
Date last edited |
2017-05-05 20:07:23 +02:00 (CEST) |

Variant on transcripts
Screenings
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