All variants in the LARGE gene

NOTE: gene symbol was recently changed from LARGE to LARGE1. This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_004737.4 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     
+/. 2i_10i c.-83+31477_1131+3394del r.-82_1131del p.? - pathogenic g.33774511_34221251del g.33378525_33825263del - - LARGE_000087 Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Cummings 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
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