Variant #0000905276 (NC_000006.11:g.(129371234_129380928)_(129419561_129465045)del, NC_000006.11(NM_000426.3):c.(283+1_284-1)_(639+1_640-1)del (LAMA2))

Individual ID 00426502
Chromosome 6
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.(129371234_129380928)_(129419561_129465045)del
DNA change (hg38) -
Published as del ex3-4
ISCN -
DB-ID LAMA2_000478 See all 5 reported entries
Variant remarks -
Reference PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018
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 +/. 2i_4i c.(283+1_284-1)_(639+1_640-1)del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000427823 DNA SEQ - - LAMA2 1 Johan den Dunnen


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