Variant #0000817810 (NC_000004.11:g.113575316G>C, LARP7(NM_016648.2):c.1689+1G>C)

Individual ID 00387786
Chromosome 4
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.113575316G>C
DNA change (hg38) g.112654160G>C
Published as NM_001267039:c.1689+1G>C
ISCN -
DB-ID LARP7_000015
Variant remarks -
Reference PubMed: Hu 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-10-31 12:02:46 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LARP7 NM_016648.2 +/. - c.1689+1G>C r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000389017 DNA SEQ;SEQ-NG - - LARP7 1 Johan den Dunnen