Full data view for gene TIMM8A

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

16 entries on 1 page. Showing entries 1 - 16.
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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.70G>T p.(Glu24*) - - - - Unknown - g.100603583C>A - - - TIMM8A_000009 MSCV_0023511 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.73del p.(Val25*) - - - - Unknown - g.100603580del - - - TIMM8A_000008 MSCV_0023510 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 1/2 c.112C>T p.(Gln38*) - stop_gained - - Unknown subst g.100603541G>A - 5.110 - TIMM8A_000002 MSCV_0001541 rs80356559 - ; clinVar; Ensembl; 20301395;17999202 - - - - - - - - - - - - - - - - - - -
./. - - c.112C>T p.(Gln38*) - - - - Unknown - g.100603541G>A - - - TIMM8A_000002 MSCV_0001541 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.116del p.(Met39Argfs*11) - - - - Unknown - g.100603537del - - - TIMM8A_000007 MSCV_0023508 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.127del p.(Cys43Valfs*7) - - - - Unknown - g.100603526del - - - TIMM8A_000011 MSCV_0023507 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.132+1850A>C p.(=) - - - - Unknown - g.100601671T>G - - - TIMM8A_000010 MSCV_0023506 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.132+1888_132+1897del p.(=) - - - - Unknown - g.100601624_100601633del - - - TIMM8A_000012 MSCV_0023505 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - - c.132+1938C>G p.(=) - - - - Unknown subst g.100601583G>C - 1.650 - TIMM8A_000001 MSCV_0001540 rs80356560 - ; clinVar; Ensembl; 10878669;20301395 - - - - - - - - - - - - - - - - - - -
./. - - c.132+1938C>G p.(=) - - - - Unknown - g.100601583G>C - - - TIMM8A_000001 MSCV_0001540 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - - c.132+1978C>T p.(=) - - - - Unknown subst g.100601543G>A - 5.330 - TIMM8A_000005 MSCV_0001539 rs1054894 - ; clinVar; Ensembl; 11405816 - - - - - - - - - - - - - - - - - - -
./. - - c.132+1978C>T p.(=) - - - - Unknown - g.100601543G>A - - - TIMM8A_000005 MSCV_0001539 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
?/? - - c.132+2536_132+2537insTGA p.(=) - - - - Unknown ins g.100600984_100600985insTCA - - - TIMM8A_000006 MSCV_0003445 - - ; - - - - - - - - - - - - - - - - - - - -
-/- - - c.132+2538_132+2539insGAT p.(=) - - - - Unknown ins g.100600982_100600983insATC - - - TIMM8A_000003 MSCV_0001537 rs80356558 - ; clinVar; 20301395 - - - - - - - - - - - - - - - - - - -
-/- - - c.132+2538_132+2539insTGA p.(=) - - - - Unknown ins g.100600982_100600983insTCA - - - TIMM8A_000004 MSCV_0001538 rs80356558 - ; clinVar; 20301395 - - - - - - - - - - - - - - - - - - -
./. - - c.132+2539_132+2540insGAT p.(=) - - - - Unknown - g.100600981_100600982insATC - - - TIMM8A_000013 MSCV_0023502 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium