Variant #0000036385 (NC_000014.8:g.76231034G>T, NM_015072.4:c.1627G>T (TTLL5))
Individual ID |
00016584 |
Chromosome |
14 |
Allele |
Both (homozygous) |
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.76231034G>T |
DNA change (hg38) |
g.75764691G>T |
Published as |
1627G>T |
ISCN |
- |
DB-ID |
TTLL5_000005 |
Variant remarks |
- |
Reference |
PubMed: Sergouniotis 2014 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
2/63 patients |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Marianne Vos (LOVD-team) |
Database submission license |
No license selected |
Created by |
Marianne Vos (LOVD-team) |
Date created |
2014-05-09 12:49:05 +02:00 (CEST) |
Date last edited |
2014-05-28 20:54:05 +02:00 (CEST) |

Variant on transcripts
Screenings
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