Variant #0000815600 (NC_000010.10:g.95372895T>C, NM_006204.3:c.413T>C (PDE6C))
Individual ID |
00386205 |
Chromosome |
10 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.95372895T>C |
DNA change (hg38) |
g.93613138T>C |
Published as |
PDE6C:NM_006204 c.T413C, p.L138S |
ISCN |
- |
DB-ID |
PDE6C_000005 See all 4 reported entries |
Variant remarks |
heterozygous, individual unsolved, causality of variants unknown |
Reference |
PubMed: Rodriguez-Munoz 2020 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00125 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2021-10-20 11:58:39 +02:00 (CEST) |
Date last edited |
2021-10-20 12:03:34 +02:00 (CEST) |

Variant on transcripts
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