Variant #0000514853 (NC_000002.11:g.220432090C>T, NM_015311.2:c.1742G>A (OBSL1))
Chromosome |
2 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.220432090C>T |
DNA change (hg38) |
g.219567368C>T |
Published as |
OBSL1(NM_015311.2):c.1742G>A (p.C581Y) |
ISCN |
- |
DB-ID |
INHA_000007 |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
6.0E-5 View details |
Owner |
VKGL-NL_Rotterdam |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Rotterdam |
Date created |
2019-07-18 18:22:55 +02:00 (CEST) |
Date last edited |
2022-11-01 13:01:21 +01:00 (CET) |

Variant on transcripts
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