Variant #0000595122 (NC_000007.13:g.73450911G>T, NM_000501.2:c.160G>T (ELN))
| Individual ID |
00263436 |
| Chromosome |
7 |
| Allele |
Unknown |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
pathogenic (dominant) |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.73450911G>T |
| DNA change (hg38) |
g.74036581G>T |
| Published as |
- |
| ISCN |
- |
| DB-ID |
ELN_000134 |
| Variant remarks |
- |
| Reference |
Yanagisawa 2019, submitted |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
yes |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Hiromi Yanagisawa |
| Database submission license |
No license selected |
| Created by |
Hiromi Yanagisawa |
| Date created |
2019-08-30 04:17:01 +02:00 (CEST) |
| Date last edited |
2019-09-13 13:20:57 +02:00 (CEST) |

Variant on transcripts
Screenings
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