Full data view for gene BOLA3

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

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Date     

Template     

Technique     

Tissue     

Description     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Consanguinity     

Age of death     

Cause of death     

Remarks     

Panel size     

Owner     
./. - - c.-35C>T p.(=) - - - - Unknown - g.74375036G>A - - - BOLA3_000008 MSCV_0019255 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.-8G>A p.(=) - - - - Unknown - g.74375009C>T - - - BOLA3_000007 MSCV_0019254 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.123_124insA p.(Glu42Argfs*13) - - - - Unknown - g.74372361_74372362insT - - - BOLA3_000006 MSCV_0019253 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.136C>T p.(Arg46*) - - - - Unknown - g.74372349G>A - - - BOLA3_000005 MSCV_0019252 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.137G>A p.(Arg46Gln) - - - - Unknown - g.74372348C>T - - - BOLA3_000004 MSCV_0019251 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.169+2840G>A p.(=) - - - - Unknown - g.74369476C>T - - - BOLA3_000003 MSCV_0019250 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.169+2915C>G p.(=) - - - - Unknown - g.74369401G>C - - - BOLA3_000002 MSCV_0019249 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.230C>T p.(Thr77Met) - - - - Unknown - g.74362725G>A - - - BOLA3_000001 MSCV_0019248 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.266T>C p.(Leu89Ser) - - - - Unknown - g.74362689A>G - - - BOLA3_000010 MSCV_0019247 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.*119G>A p.(=) - - - - Unknown - g.74362530C>T - - - BOLA3_000009 MSCV_0019246 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
Legend  

Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium