Genomic variant #0000001147

Individual ID 00000049
Chromosome 6
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.129687396G>A
DNA change (hg38) g.129366251G>A
Published as -
ISCN -
DB-ID LAMA2_000123 See all 17 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.02468 View details
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
LAMA2 NM_000426.3 ?/. 33 c.4750G>A - r.(?) p.(Gly1584Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000049 DNA SEQ-NG - - ATP7B, CYP21A2, DPYD, ETFB, GALC, GLB1, IGHMBP2, LAMA2, MPL, MYO5A, NPHP4, SERPINA1, SGSH, SLC26A2 16 LOVD-team, but with Curator vacancy