Full data view for gene PDHX

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

4 entries on 1 page. Showing entries 1 - 4.
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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     
./. - - c.-197del p.(=) - - - - Unknown - g.34938006del - - - PDHX_000004 - - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
?/? - 1/6 c.44G>A p.? probably_damaging(0.983) missense_variant - deleterious(0) Unknown subst g.34938246G>A - 5.330 - PDHX_000001 MSCV_0000290 - - ; - - - - - - - - - - - - - - - - - - - - -
+/+ - 6/11 c.742C>G p.? benign(0.002) missense_variant - tolerated(0.98) Unknown subst g.34988287C>G - 3.640 - PDHX_000002 MSCV_0000291 rs113309941 - ; clinvar; ensembl; 17152059 - - - - - - - - - - - - - - - - - - - -
+/+ - 6/11 c.742C>T p.? - stop_gained - - Unknown subst g.34988287C>T - 3.640 - PDHX_000003 MSCV_0000292 rs113309941 - ; clinvar; ensembl; 17152059 - - - - - - - - - - - - - - - - - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium