View all transcript variants in gene TIMM8A

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

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
+/+ - 1/2 c.112C>T p.(Gln38*) - stop_gained - - subst g.100603541G>A - 5.110 - TIMM8A_000002 rs80356559 - ; clinVar; Ensembl; 20301395;17999202 - - LOVD
+/+ - - c.132+1938C>G p.(=) - - - - subst g.100601583G>C - 1.650 - TIMM8A_000001 rs80356560 - ; clinVar; Ensembl; 10878669;20301395 - - LOVD
+/+ - - c.132+1978C>T p.(=) - - - - subst g.100601543G>A - 5.330 - TIMM8A_000005 rs1054894 - ; clinVar; Ensembl; 11405816 - - LOVD
?/? - - c.132+2536_132+2537insTGA p.(=) - - - - ins g.100600984_100600985insTCA - - - TIMM8A_000006 - - ; - - - LOVD
-/- - - c.132+2538_132+2539insGAT p.(=) - - - - ins g.100600982_100600983insATC - - - TIMM8A_000003 rs80356558 - ; clinVar; 20301395 - - LOVD
-/- - - c.132+2538_132+2539insTGA p.(=) - - - - ins g.100600982_100600983insTCA - - - TIMM8A_000004 rs80356558 - ; clinVar; 20301395 - - LOVD
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium