Variant #0000036060 (NC_000008.10:g.42977377T>G, NM_032237.4:c.410T>G (POMK))
Individual ID |
00016343 |
Chromosome |
8 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Effect unknown |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.42977377T>G |
DNA change (hg38) |
g.43122234T>G |
Published as |
- |
ISCN |
- |
DB-ID |
POMK_000001 See all 3 reported entries |
Variant remarks |
- |
Reference |
PubMed: Jae 2013, OMIM:var0001 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2014-03-22 16:38:30 +01:00 (CET) |
Date last edited |
2014-06-18 15:12:27 +02:00 (CEST) |

Variant on transcripts
Screenings
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