Unique variants in gene AIFM1

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

3 entries on 1 page. Showing entries 1 - 3.
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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.103C>T p.(Pro35Ser) - - - - - g.129299528G>A - - - AIFM1_000003 - - ; clinvar; - - - LOVD
+/+ 1 - - c.107-10312_107-10310del p.(=) - - - - del g.129281470_129281472del - - - AIFM1_000001 rs387906500 - ; clinVar; 20362274 - - LOVD
./. 1 - - c.972T>C p.(=) - - - - - g.129263541A>G - - - AIFM1_000002 - - ; clinvar; - - - LOVD
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium