View all transcript variants in gene MT-ATP6

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the MT-ATP6-201 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     
?/? - . c.397A>G p.T133A - - - - M Unknown subst m.8923A>G - 4.900 - chrM_001391 MSCV_0004947 rs200329150 - ; - - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium