View unique variants in gene TIMM8A

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

13 entries on 1 page. Showing entries 1 - 13.
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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.70G>T p.(Glu24*) - - - - X Unknown - g.100603583C>A - - - TIMM8A_000009 MSCV_0023511 - - ; clinvar; - - - -
./. 1 - - c.73del p.(Val25*) - - - - X Unknown - g.100603580del - - - TIMM8A_000008 MSCV_0023510 - - ; clinvar; - - - -
+/+, ./. 2 - 1/2 c.112C>T p.(Gln38*) - stop_gained - - X Unknown subst g.100603541G>A - 5.110 - TIMM8A_000002 MSCV_0001541 rs80356559 - ; clinvar, , clinVar; Ensembl; 20301395;17999202 - - -
./. 1 - - c.116del p.(Met39Argfs*11) - - - - X Unknown - g.100603537del - - - TIMM8A_000007 MSCV_0023508 - - ; clinvar; - - - -
./. 1 - - c.127del p.(Cys43Valfs*7) - - - - X Unknown - g.100603526del - - - TIMM8A_000011 MSCV_0023507 - - ; clinvar; - - - -
./. 1 - - c.132+1850A>C p.(=) - - - - X Unknown - g.100601671T>G - - - TIMM8A_000010 MSCV_0023506 - - ; clinvar; - - - -
./. 1 - - c.132+1888_132+1897del p.(=) - - - - X Unknown - g.100601624_100601633del - - - TIMM8A_000012 MSCV_0023505 - - ; clinvar; - - - -
+/+, ./. 2 - - c.132+1938C>G p.(=) - - - - X Unknown subst g.100601583G>C - 1.650 - TIMM8A_000001 MSCV_0001540 rs80356560 - ; clinvar, , clinVar; Ensembl; 10878669;20301395 - - -
+/+, ./. 2 - - c.132+1978C>T p.(=) - - - - X Unknown subst g.100601543G>A - 5.330 - TIMM8A_000005 MSCV_0001539 rs1054894 - ; clinvar, , clinVar; Ensembl; 11405816 - - -
?/? 1 - - c.132+2536_132+2537insTGA p.(=) - - - - X Unknown ins g.100600984_100600985insTCA - - - TIMM8A_000006 MSCV_0003445 - - ; - - - -
-/- 1 - - c.132+2538_132+2539insGAT p.(=) - - - - X Unknown ins g.100600982_100600983insATC - - - TIMM8A_000003 MSCV_0001537 rs80356558 - ; clinVar; 20301395 - - -
-/- 1 - - c.132+2538_132+2539insTGA p.(=) - - - - X Unknown ins g.100600982_100600983insTCA - - - TIMM8A_000004 MSCV_0001538 rs80356558 - ; clinVar; 20301395 - - -
./. 1 - - c.132+2539_132+2540insGAT p.(=) - - - - X 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