Variant #0000063236 (NC_000006.11:g.129381042G>A, NC_000006.11(NM_000426.3):c.396+1G>A (LAMA2))

Individual ID 00036041
Chromosome 6
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.129381042G>A
DNA change (hg38) g.129059897G>A
Published as -
ISCN -
DB-ID LAMA2_000384 See all 2 reported entries
Variant remarks segregation analysis confirmed second pathogenic variant c.8586T>G transmitted from the father
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2015-04-02 13:01:39 +02:00 (CEST)
Date last edited 2020-06-22 13:32:38 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LAMA2 NM_000426.3 +?/. 3i c.396+1G>A r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000036111 DNA SEQ - - LAMA2 1 Andreas Laner


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