Variant #0000001136 (NC_000006.11:g.129635800G>A, NM_000426.3:c.3412G>A (LAMA2))

Individual ID 00000054
Chromosome 6
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.129635800G>A
DNA change (hg38) g.129314655G>A
Published as -
ISCN -
DB-ID LAMA2_000064 See all 27 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.06484 View details
Owner Gerard C.P. Schaafsma
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Gerard C.P. Schaafsma
Date created 2011-04-06 16:20:25 +02:00 (CEST)
Date last edited 2024-04-16 05:26:34 +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 ?/. 24 c.3412G>A r.(?) p.(Val1138Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000054 DNA SEQ-NG - - ATM, ATP7B, DPYD, ETFB, GALC, GLB1, GNPTAB, LAMA2, LAMA3, NHLRC1, NPHS1, SERPINA1, SLC26A2 13 Global Variome, with Curator vacancy


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