View 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.
Legend  

Effect     

Reported     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
+/+ 1 - - c.107-10312_107-10310del p.(=) - - - - X Unknown del g.129281470_129281472del - - - AIFM1_000001 MSCV_0001545 rs387906500 - ; clinVar; 20362274 - - -
./. 1 - - c.107-10310_107-10308del p.(=) - - - - X Unknown - g.129281468_129281470del - - - AIFM1_000004 MSCV_0023516 - - ; clinvar; - - - -
./. 1 - - c.575A>G p.(Gln192Arg) - - - - X Unknown - g.129267300T>C - - - AIFM1_000005 MSCV_0023515 - - ; clinvar; - - - -
Legend  

Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium