All transcript variants in gene NOMO3

Information The variants shown are described using the NM_001004067.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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.-1521143_*172995dup - r.? p.? g.14805381_16561151dup g.14711524_16467294dup - - MYH11_000002 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
./. - c.-831820_*304del - r.? p.? g.15494704_16388460del g.15400847_16294603del - - MYH11_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen
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