Variant #0000873905 (NC_000006.11:g.129687396G>A, NM_000426.3:c.4750G>A (LAMA2))

Individual ID 00414704
Chromosome 6
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.129687396G>A
DNA change (hg38) g.129366251G>A
Published as LAMA2 6:129729089 (hg18) het CM030232
ISCN -
DB-ID LAMA2_000123 See all 18 reported entries
Variant remarks non-causative, heterozygous
Reference PubMed: Bell 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.01953 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-08-02 11:28:48 +02:00 (CEST)
Date last edited 2025-06-08 15:26:04 +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 -/. - c.4750G>A r.(?) p.(Gly1584Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000415985 DNA;RNA SEQ-NG blood - GALT 14 LOVD


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