Full data view for gene ATP5E

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the NM_006886.3 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     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Variant_disease     

Date     

Template     

Technique     

Tissue     

Description     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Consanguinity     

Age of death     

Cause of death     

Remarks     

Panel size     

Owner     
+/+ - 2/3 c.35A>G p.(Tyr12Cys) probably_damaging(0.998) missense_variant,splice_region_variant - deleterious(0) Unknown subst g.57605482T>C - 5.690 - ATP5E_000001 MSCV_0000895 rs387906929 - ; clinVar; ensembl; 20566710 - - - - - - - - - - - - - - - - - - - -
./. - - c.35A>G p.(Tyr12Cys) - - - - Unknown - g.57605482T>C - - - ATP5E_000001 MSCV_0000895 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium