View unique variants in gene HSD17B10

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     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
./. 1 - - c.194T>C p.(Val65Ala) - - - - X Unknown - g.53459358A>G - - - HSD17B10_000009 MSCV_0023501 - - ; clinvar; - - - -
./. 1 - - c.218C>G p.(Thr73Arg) - - - - X Unknown - g.53459334G>C - - - HSD17B10_000008 MSCV_0023500 - - ; clinvar; - - - -
./. 1 - - c.257A>G p.(Asp86Gly) - - - - X Unknown - g.53459295T>C - - - HSD17B10_000007 MSCV_0023499 - - ; clinvar; - - - -
./. 1 - - c.364C>G p.(Leu122Val) - - - - X Unknown - g.53459058G>C - - - HSD17B10_000006 MSCV_0023498 - - ; clinvar; - - - -
./. 1 - - c.388C>T p.(Arg130Cys) - - - - X Unknown - g.53459034G>A - - - HSD17B10_000005 MSCV_0023497 - - ; clinvar; - - - -
./. 1 - - c.568+6C>A p.(=) - - - - X Unknown - g.53458767G>T - - - HSD17B10_000004 MSCV_0023496 - - ; clinvar; - - - -
./. 1 - - c.568+24C>A p.(=) - - - - X Unknown - g.53458749G>T - - - HSD17B10_000003 MSCV_0023495 - - ; clinvar; - - - -
./. 1 - - c.607A>G p.(Lys203Glu) - - - - X Unknown - g.53458504T>C - - - HSD17B10_000002 MSCV_0023494 - - ; clinvar; - - - -
./. 1 - - c.650G>A p.(Arg217Gln) - - - - X Unknown - g.53458461C>T - - - HSD17B10_000001 MSCV_0023493 - - ; clinvar; - - - -
./. 1 - - c.713A>G p.(Asn238Ser) - - - - X Unknown - g.53458398T>C - - - HSD17B10_000010 MSCV_0023492 - - ; clinvar; - - - -
./. 1 - - c.718G>C p.(Glu240Gln) - - - - X Unknown - g.53458393C>G - - - HSD17B10_000011 MSCV_0023491 - - ; clinvar; - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium