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     
?/? - 5/7 c.449A>G p.(Tyr150Cys) probably_damaging(0.998) missense_variant - deleterious(0) 4 Unknown subst g.17493951T>C - 5.260 - QDPR_000005 MSCV_0000991 rs104893866 - ; 9744478 - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium