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 InternationalCreative Commons License
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)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LARP7 NM_016648.2 +/. - c.1024_1030dup r.(?) p.(Thr344Lysfs*9)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081009 DNA SEQ;SEQ-NG - - LARP7 1 Daniel Trujillano