All transcript variants in gene LCMT1

Information The variants shown are described using the NM_001032391.1 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.-3592998_*4142901del - r.0? p.0? g.21530207_29332245del g.21518886_29320924del - - CLN3_000009 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
?/. - c.205+1771del - - p.(=) g.25141658del g.25130337del - - LCMT1_000003 - - - - Germline - - - - - Yu Sun
?/. - c.206-1248T>C - - p.(=) g.25142475T>C g.25131154T>C - - LCMT1_000002 - - - - Germline - - - - - Yu Sun
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