Variant #0000922395 (NC_000008.10:g.22862972C>T, NM_001160036.1:c.346C>T (RHOBTB2))
Individual ID |
00434591 |
Chromosome |
8 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.22862972C>T |
DNA change (hg38) |
g.23005459C>T |
Published as |
- |
ISCN |
- |
DB-ID |
RHOBTB2_000021 |
Variant remarks |
- |
Reference |
Langhammer 2023 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
De novo |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Franziska Langhammer |
Database submission license |
No license selected |
Created by |
Franziska Langhammer |
Date created |
2023-04-03 10:56:25 +02:00 (CEST) |
Date last edited |
2023-04-06 13:15:58 +02:00 (CEST) |

Variant on transcripts
Screenings
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