Variant #0000036386 (NC_000014.8:g.76231034G>A, NM_015072.4:c.1627G>A (TTLL5))
| Individual ID |
00016585 |
| Chromosome |
14 |
| Allele |
Both (homozygous) |
| Affects function (as reported) |
Probably affects function |
| Affects function (by curator) |
Effect unknown |
| Classification method |
- |
| Clinical classification |
likely pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.76231034G>A |
| DNA change (hg38) |
g.75764691G>A |
| Published as |
- |
| ISCN |
- |
| DB-ID |
TTLL5_000006 See all 8 reported entries |
| Variant remarks |
- |
| Reference |
PubMed: Sergouniotis 2014 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
? |
| Frequency |
1/55 cases |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
0.00024 View details |
| Owner |
Marianne Vos (LOVD-team) |
| Database submission license |
No license selected |
| Created by |
Marianne Vos (LOVD-team) |
| Date created |
2014-05-09 12:55:06 +02:00 (CEST) |
| Date last edited |
2014-05-28 20:56:39 +02:00 (CEST) |

Variant on transcripts
Screenings
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|