All transcript variants in gene PLP1

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

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
./. - - c.365A>G p.(Lys122Arg) - - - - - g.103041567A>G - - - PLP1_000002 - - ; clinvar; - - - LOVD
./. - - c.739G>A p.(Ala247Thr) - - - - - g.103044304G>A - - - PLP1_000001 - - ; clinvar; - - - LOVD
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium