Unique variants in gene CYP27A1

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the NM_000784.3 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Reported     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
./. 1 - - c.241C>A - - - - - - g.219647146C>A - - - CYP27A1_000005 - - ; clinvar; - - - LOVD
./. 1 - - c.276C>T - - - - - - g.219674320C>T - - - CYP27A1_000001 - - ; clinvar; - - - LOVD
./. 1 - - c.789C>T - - - - - - g.219677417C>T - - - CYP27A1_000002 - - ; clinvar; - - - LOVD
./. 1 - - c.958C>T - - - - - - g.219677760C>T - - - CYP27A1_000003 - - ; clinvar; - - - LOVD
./. 1 - - c.1148T>A - - - - - - g.219678874T>A - - - CYP27A1_000004 - - ; clinvar; - - - LOVD
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium