Variant #0000368944 (NC_000008.10:g.22865223C>G, NM_001160036.1:c.1531C>G (RHOBTB2))
Individual ID |
00164419 |
Chromosome |
8 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.22865223C>G |
DNA change (hg38) |
g.23007710C>G |
Published as |
- |
ISCN |
- |
DB-ID |
RHOBTB2_000008 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
IMGAG |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
IMGAG |
Date created |
2018-05-17 16:06:47 +02:00 (CEST) |
Date last edited |
2018-08-01 10:41:55 +02:00 (CEST) |

Variant on transcripts
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