Variant #0000922403 (NC_000008.10:g.22863645C>T, NM_001160036.1:c.535C>T (RHOBTB2))
| Individual ID |
00434599 |
| Chromosome |
8 |
| Allele |
Both (homozygous) |
| 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.22863645C>T |
| DNA change (hg38) |
g.23006132C>T |
| Published as |
- |
| ISCN |
- |
| DB-ID |
RHOBTB2_000025 |
| Variant remarks |
- |
| Reference |
Langhammer 2023 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| 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 12:02:29 +02:00 (CEST) |
| Date last edited |
2023-04-06 13:19:06 +02:00 (CEST) |

Variant on transcripts
Screenings
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