Variant #0000794889 (NC_000010.10:g.(?_95372482)_(95372963_95380388)del, NC_000010.10(NM_006204.3):c.(?_-1)_(480+1_481-1)del (PDE6C))
Individual ID |
00379683 |
Chromosome |
10 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(?_95372482)_(95372963_95380388)del |
DNA change (hg38) |
g.(?_93612725)_(93613206_93620631)del |
Published as |
1-?_480+?del |
ISCN |
- |
DB-ID |
PDE6C_000083 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline/De novo (untested) |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Jinu Han |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Jinu Han |
Date created |
2021-08-13 04:57:53 +02:00 (CEST) |
Date last edited |
2021-08-18 13:41:57 +02:00 (CEST) |

Variant on transcripts
Screenings
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