View all transcript variants in gene TMEM126A

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the NM_032273.3 transcript reference sequence.

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Effect     

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     

Variant_disease     

Owner     
+/+ - 3/5 c.163C>T p.(Arg55*) - stop_gained,NMD_transcript_variant - - 11 Unknown subst g.85365183C>T - 4.820 - TMEM126A_000001 MSCV_0002159 rs121434508 - ; clinvar; 20405026;22815638;19327736 - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium