Variant #0000130095 (NC_000004.11:g.113568872_113568878dup, LARP7(NM_016648.2):c.1024_1030dup)
Individual ID |
00080897 |
Chromosome |
4 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.113568872_113568878dup |
DNA change (hg38) |
g.112647716_112647722dup |
Published as |
- |
ISCN |
- |
DB-ID |
LARP7_000001 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Trujillano 2017 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Daniel Trujillano |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2016-09-07 13:24:08 +02:00 (CEST) |
Date last edited |
2021-03-09 15:58:08 +01:00 (CET) |

Variant on transcripts
Screenings
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