Variant #0000036383 (NC_000014.8:g.76156564del, NM_015072.4:c.401del (TTLL5))
| Individual ID |
00016583 |
| Chromosome |
14 |
| Allele |
Parent #1 |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Effect unknown |
| Classification method |
- |
| Clinical classification |
pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.76156564del |
| DNA change (hg38) |
g.75690221del |
| Published as |
401delT |
| ISCN |
- |
| DB-ID |
TTLL5_000003 |
| Variant remarks |
- |
| Reference |
PubMed: Sergouniotis 2014 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
yes |
| Frequency |
1/28 patients |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
1.0E-5 View details |
| Owner |
Marianne Vos (LOVD-team) |
| Database submission license |
No license selected |
| Created by |
Marianne Vos (LOVD-team) |
| Date created |
2014-05-09 12:14:37 +02:00 (CEST) |
| Date last edited |
2020-07-05 16:09:24 +02:00 (CEST) |

Variant on transcripts
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