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     
?/? - 2/7 c.106T>C p.(Trp36Arg) probably_damaging(0.995) missense_variant,splice_region_variant - tolerated(0.24) 4 Unknown subst g.17510986A>G - 5.520 - QDPR_000003 MSCV_0000994 rs104893865 - ; 9341885 - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium