Variant #0000097118 (NC_000006.11:g.107070811C>T, NM_032730.4:c.308G>A (RTN4IP1))
| Individual ID |
00065280 |
| Chromosome |
6 |
| Allele |
Both (homozygous) |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
pathogenic (recessive) |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.107070811C>T |
| DNA change (hg38) |
g.106622936C>T |
| Published as |
- |
| ISCN |
- |
| DB-ID |
RTN4IP1_000001 See all 25 reported entries |
| Variant remarks |
- |
| Reference |
PubMed: Angebault 2015 PubMed: Meunier 2020 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
yes |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
3.0E-5 View details |
| Owner |
Pieter Klap |
| Database submission license |
No license selected |
| Created by |
Pieter Klap |
| Date created |
2016-05-25 15:28:51 +02:00 (CEST) |
| Date last edited |
2022-06-08 09:36:24 +02:00 (CEST) |

Variant on transcripts
Screenings
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|