View all transcript variants in gene QDPR

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the NM_000320.2 transcript reference sequence.

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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     
?/? - 4/7 c.322T>G p.(Trp108Gly) benign(0.328) missense_variant - tolerated(0.07) 4 Unknown subst g.17503456A>C - 5.650 - QDPR_000001 MSCV_0000992 rs104893864 - ; 8326489 - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium