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
|