Variant #0000900643 (NC_000012.11:g.89815027G>C, NM_172240.2:c.1340C>G (POC1B))
Individual ID |
00423252 |
Chromosome |
12 |
Allele |
Parent #2 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.89815027G>C |
DNA change (hg38) |
g.89421250G>C |
Published as |
POC1B c.1340C>G, p.(S447*) |
ISCN |
- |
DB-ID |
POC1B_000033 See all 2 reported entries |
Variant remarks |
heterozygous, confirmed on mRNA level |
Reference |
PubMed: Weisschuh 2021 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2022-11-14 15:26:54 +01:00 (CET) |
Date last edited |
2022-11-14 15:28:04 +01:00 (CET) |

Variant on transcripts
Screenings
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