Variant #0000711016 (NC_000012.11:g.89815013G>A, NM_172240.2:c.1354C>T (POC1B))
Individual ID |
00324522 |
Chromosome |
12 |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.89815013G>A |
DNA change (hg38) |
g.89421236G>A |
Published as |
- |
ISCN |
- |
DB-ID |
POC1B_000019 See all 3 reported entries |
Variant remarks |
- |
Reference |
PubMed: Jin 2018, PubMed: Jin 2018 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
3.0E-5 View details |
Owner |
Jens Doets |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2021-01-07 11:13:12 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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