View unique variants in 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     

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.-35C>T p.(=) - - - - 2 Unknown - g.74375036G>A - - - BOLA3_000008 MSCV_0019255 - - ; clinvar; - - - -
./. 1 - - c.-8G>A p.(=) - - - - 2 Unknown - g.74375009C>T - - - BOLA3_000007 MSCV_0019254 - - ; clinvar; - - - -
./. 1 - - c.123_124insA p.(Glu42Argfs*13) - - - - 2 Unknown - g.74372361_74372362insT - - - BOLA3_000006 MSCV_0019253 - - ; clinvar; - - - -
./. 1 - - c.136C>T p.(Arg46*) - - - - 2 Unknown - g.74372349G>A - - - BOLA3_000005 MSCV_0019252 - - ; clinvar; - - - -
./. 1 - - c.137G>A p.(Arg46Gln) - - - - 2 Unknown - g.74372348C>T - - - BOLA3_000004 MSCV_0019251 - - ; clinvar; - - - -
./. 1 - - c.169+2840G>A p.(=) - - - - 2 Unknown - g.74369476C>T - - - BOLA3_000003 MSCV_0019250 - - ; clinvar; - - - -
./. 1 - - c.169+2915C>G p.(=) - - - - 2 Unknown - g.74369401G>C - - - BOLA3_000002 MSCV_0019249 - - ; clinvar; - - - -
./. 1 - - c.230C>T p.(Thr77Met) - - - - 2 Unknown - g.74362725G>A - - - BOLA3_000001 MSCV_0019248 - - ; clinvar; - - - -
./. 1 - - c.266T>C p.(Leu89Ser) - - - - 2 Unknown - g.74362689A>G - - - BOLA3_000010 MSCV_0019247 - - ; clinvar; - - - -
./. 1 - - c.*119G>A p.(=) - - - - 2 Unknown - g.74362530C>T - - - BOLA3_000009 MSCV_0019246 - - ; clinvar; - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium