Variant #0000370408 (NC_000006.11:g.129204422T>C, NM_000426.3:c.32T>C (LAMA2))

Chromosome 6
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.129204422T>C
DNA change (hg38) g.128883277T>C
Published as -
ISCN -
DB-ID LAMA2_000482 See all 2 reported entries
Variant remarks -
Reference PubMed: Oliveira 2018, Journal: Oliveira 2018
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Jorge Oliveira
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2018-06-29 15:10:22 +02:00 (CEST)
Date last edited 2019-02-28 09:08:55 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LAMA2 NM_000426.3 ?/? 1 c.32T>C r.(?) p.(Leu11Pro)


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