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
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