Variant #0000905425 (NC_000006.11:g.129204446dup, NM_000426.3:c.56dup (LAMA2))

Individual ID 00426525
Chromosome 6
Allele Maternal (confirmed)
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.129204446dup
DNA change (hg38) g.128883301dup
Published as c.56dupG
ISCN -
DB-ID LAMA2_000764 See all 2 reported entries
Variant remarks -
Reference PubMed: Ge 2019, PubMed: Tan 2021
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 2022-12-01 16:50:45 +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     
LAMA2 NM_000426.3 +/. 1 c.56dup r.(?) p.(Val20ArgfsTer30)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000427846 DNA SEQ - - LAMA2 2 Johan den Dunnen


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