All variants in the LAMA3 gene

Information The variants shown are described using the NM_198129.1 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. - c.5904dup r.(?) p.(Glu1969ArgfsTer4) - pathogenic g.21479319dup g.23899355dup LAMA3(NM_198129.4):c.5905delGinsAG (p.E1969Rfs*4) - LAMA3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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