Variant #0000675140 (NC_000004.11:g.113568938_113568941del, LARP7(NM_016648.2):c.1091_1094del)

Individual ID 00307105
Chromosome 4
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.113568938_113568941del
DNA change (hg38) -
Published as -
ISCN -
DB-ID LARP7_000007 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner IMGAG
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by IMGAG
Date created 2020-07-31 11:24:01 +02:00 (CEST)
Date last edited 2020-08-04 08:34:41 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LARP7 NM_016648.2 +?/. - c.1091_1094del r.(?) p.(Lys364Argfs*12)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000308247 DNA SEQ - - - 2 IMGAG