Unique variants in gene COX20

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

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Reported     

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 - - c.-38C>T - - - - - - g.244998979C>T - - - COX20_000002 - - ; clinvar; - - - LOVD
+/+ 1 - 3/5 c.154A>C p.(Thr52Pro) probably_damaging(0.998) missense_variant - deleterious(0) subst g.245005357A>C - 5.850 - COX20_000001 - - ; clinvar; - - - LOVD
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium