View all transcript variants in gene COX15

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     

Variant_disease     

Owner     
./. - - c.649C>T p.(Arg217Trp) - - - - 10 Unknown - g.101483814G>A - - - COX15_000001 - - - ; clinvar; - - - - Lishuang Shen
+/+ - 5/9 c.649C>T p.(Arg217Trp) probably_damaging(1) missense_variant - deleterious(0) 10 Unknown subst g.101483814G>A - 4.610 - COX15_000001 MSCV_0000231 rs28939711 - ; clinvar; ensembl; 12474143;15235026;21412973;2175025 - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium