View all transcript 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     

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     
+/+ - 3/5 c.154A>C p.(Thr52Pro) probably_damaging(0.998) missense_variant - deleterious(0) 1 Unknown subst g.245005357A>C - 5.850 - COX20_000001 MSCV_0000188 - - ; clinvar; - - - -
./. - - c.154A>C p.(Thr52Pro) - - - - 1 Unknown - g.245005357A>C - - - COX20_000001 MSCV_0000188 - - ; clinvar; - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium