Variant #0000827002 (NC_000014.8:g.76173400C>T, NM_015072.4:c.625C>T (TTLL5))
| Individual ID |
00394364 |
| Chromosome |
14 |
| Allele |
Unknown |
| Affects function (as reported) |
Effect unknown |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
VUS |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.76173400C>T |
| DNA change (hg38) |
g.75707057C>T |
| Published as |
TTLL5 c.625C>T, p.Arg209Cys |
| ISCN |
- |
| DB-ID |
TTLL5_000099 See all 2 reported entries |
| Variant remarks |
heterozygous, causality unknown |
| Reference |
PubMed: Thorsteinsson 2021 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Unknown |
| Segregation |
? |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
4.0E-5 View details |
| Owner |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2021-12-01 10:17:04 +01:00 (CET) |
| Date last edited |
2025-03-14 23:15:20 +01:00 (CET) |

Variant on transcripts
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