Unique variants in gene FASTKD2

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

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

Reported     

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     
+/+ 1 - 7/12 c.1294C>T p.(Arg432*) - stop_gained - - subst g.207638988C>T - 4.790 - FASTKD2_000001 rs118203917 - ; clinVar; Ensembl; 18771761 - - LOVD
./. 1 - - c.*1215G>A - - - - - - g.207657741G>A - - - FASTKD2_000011 - - ; clinvar; - - - LOVD
./. 1 - - c.*1419_*1430del - - - - - - g.207657945_207657956del - - - FASTKD2_000006 - - ; clinvar; - - - LOVD
./. 1 - - c.*1981C>G - - - - - - g.207658507C>G - - - FASTKD2_000007 - - ; clinvar; - - - LOVD
./. 1 - - c.*2006_*2007del - - - - - - g.207658532_207658533del - - - FASTKD2_000008 - - ; clinvar; - - - LOVD
./. 1 - - c.*2107del - - - - - - g.207658633del - - - FASTKD2_000009 - - ; clinvar; - - - LOVD
./. 1 - - c.*2298C>T - - - - - - g.207658824C>T - - - FASTKD2_000010 - - ; clinvar; - - - LOVD
./. 1 - - c.*2321_*2322insAC - - - - - - g.207658847_207658848insAC - - - FASTKD2_000002 - - ; clinvar; - - - LOVD
./. 1 - - c.*2960T>C - - - - - - g.207659486T>C - - - FASTKD2_000003 - - ; clinvar; - - - LOVD
./. 1 - - c.*4201C>T - - - - - - g.207660727C>T - - - FASTKD2_000004 - - ; clinvar; - - - LOVD
./. 1 - - c.*4360A>G - - - - - - g.207660886A>G - - - FASTKD2_000005 - - ; clinvar; - - - LOVD
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium