View unique variants in gene NDUFA10

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the NM_004544.3 transcript reference sequence.

68 entries on 1 page. Showing entries 1 - 68.
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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.-93G>T p.(=) - - - - 2 Unknown - g.240964811C>A - - - NDUFA10_000044 MSCV_0019708 - - ; clinvar; - - - -
./. 1 - - c.-92C>T p.(=) - - - - 2 Unknown - g.240964810G>A - - - NDUFA10_000043 MSCV_0019707 - - ; clinvar; - - - -
./. 1 - - c.-87A>C p.(=) - - - - 2 Unknown - g.240964805T>G - - - NDUFA10_000042 MSCV_0019706 - - ; clinvar; - - - -
./. 1 - - c.-36C>T p.(=) - - - - 2 Unknown - g.240964754G>A - - - NDUFA10_000041 MSCV_0019705 - - ; clinvar; - - - -
+/+, ./. 2 - 1/4 c.1A>G p.? unknown(0) initiator_codon_variant,NMD_transcript_variant - - 2 Unknown subst g.240964718T>C - 3.040 - NDUFA10_000001 MSCV_0000888 rs387906872 - ; clinvar, , clinVar; ensembl; 21150889 - - -
./. 1 - - c.5C>G p.(Ala2Gly) - - - - 2 Unknown - g.240964714G>C - - - NDUFA10_000003 MSCV_0019703 - - ; clinvar; - - - -
./. 1 - - c.24G>A p.(=) - - - - 2 Unknown - g.240964695C>T - - - NDUFA10_000040 MSCV_0019702 - - ; clinvar; - - - -
./. 1 - - c.105A>G p.(=) - - - - 2 Unknown - g.240961728T>C - - - NDUFA10_000039 MSCV_0019701 - - ; clinvar; - - - -
./. 1 - - c.270G>A p.(=) - - - - 2 Unknown - g.240960804C>T - - - NDUFA10_000038 MSCV_0019700 - - ; clinvar; - - - -
./. 1 - - c.384_385insAAT p.(Ser128_Tyr129insAsn) - - - - 2 Unknown - g.240960689_240960690insATT - - - NDUFA10_000037 MSCV_0019699 - - ; clinvar; - - - -
+/+, ./. 2 - 3/11 c.425A>G p.(Gln142Arg) probably_damaging(0.922) missense_variant - -, tolerated(0.05) 2 Unknown subst g.240960649T>C - 4.650 - NDUFA10_000002 MSCV_0000887 rs387906873 - ; clinvar, , clinVar; ensembl; 21150889 - - -
./. 1 - - c.548-9A>G p.(=) - - - - 2 Unknown - g.240954286T>C - - - NDUFA10_000036 MSCV_0019697 - - ; clinvar; - - - -
./. 1 - - c.549T>C p.(=) - - - - 2 Unknown - g.240954276A>G - - - NDUFA10_000035 MSCV_0019696 - - ; clinvar; - - - -
./. 1 - - c.749+11C>T p.(=) - - - - 2 Unknown - g.240951023G>A - - - NDUFA10_000034 MSCV_0019695 - - ; clinvar; - - - -
./. 1 - - c.771A>G p.(=) - - - - 2 Unknown - g.240946766T>C - - - NDUFA10_000033 MSCV_0019694 - - ; clinvar; - - - -
./. 1 - - c.865C>T p.(Arg289Cys) - - - - 2 Unknown - g.240944652G>A - - - NDUFA10_000032 MSCV_0019693 - - ; clinvar; - - - -
./. 1 - - c.881T>C p.(Leu294Pro) - - - - 2 Unknown - g.240944636A>G - - - NDUFA10_000031 MSCV_0019692 - - ; clinvar; - - - -
./. 1 - - c.1000-5del p.? - - - - 2 Unknown - g.240900608del - - - NDUFA10_000028 MSCV_0019691 - - ; clinvar; - - - -
./. 1 - - c.1000-3C>G p.? - - - - 2 Unknown - g.240900606G>C - - - NDUFA10_000027 MSCV_0019690 - - ; clinvar; - - - -
./. 1 - - c.*105G>A p.(=) - - - - 2 Unknown - g.240900430C>T - - - NDUFA10_000026 MSCV_0019689 - - ; clinvar; - - - -
./. 1 - - c.*308C>T p.(=) - - - - 2 Unknown - g.240900227G>A - - - NDUFA10_000025 MSCV_0019688 - - ; clinvar; - - - -
./. 1 - - c.*361A>G p.(=) - - - - 2 Unknown - g.240900174T>C - - - NDUFA10_000024 MSCV_0019687 - - ; clinvar; - - - -
./. 1 - - c.*389C>T p.(=) - - - - 2 Unknown - g.240900146G>A - - - NDUFA10_000023 MSCV_0019686 - - ; clinvar; - - - -
./. 1 - - c.*407C>T p.(=) - - - - 2 Unknown - g.240900128G>A - - - NDUFA10_000022 MSCV_0019685 - - ; clinvar; - - - -
./. 1 - - c.*412A>G p.(=) - - - - 2 Unknown - g.240900123T>C - - - NDUFA10_000021 MSCV_0019684 - - ; clinvar; - - - -
./. 1 - - c.*414G>A p.(=) - - - - 2 Unknown - g.240900121C>T - - - NDUFA10_000020 MSCV_0019683 - - ; clinvar; - - - -
./. 1 - - c.*438C>T p.(=) - - - - 2 Unknown - g.240900097G>A - - - NDUFA10_000019 MSCV_0019682 - - ; clinvar; - - - -
./. 1 - - c.*489A>G p.(=) - - - - 2 Unknown - g.240900046T>C - - - NDUFA10_000018 MSCV_0019681 - - ; clinvar; - - - -
./. 1 - - c.*546G>A p.(=) - - - - 2 Unknown - g.240899989C>T - - - NDUFA10_000017 MSCV_0019680 - - ; clinvar; - - - -
./. 1 - - c.*631C>T p.(=) - - - - 2 Unknown - g.240899904G>A - - - NDUFA10_000016 MSCV_0019679 - - ; clinvar; - - - -
./. 1 - - c.*647C>T p.(=) - - - - 2 Unknown - g.240899888G>A - - - NDUFA10_000015 MSCV_0019678 - - ; clinvar; - - - -
./. 1 - - c.*740C>T p.(=) - - - - 2 Unknown - g.240899795G>A - - - NDUFA10_000014 MSCV_0019677 - - ; clinvar; - - - -
./. 1 - - c.*925C>G p.(=) - - - - 2 Unknown - g.240899610G>C - - - NDUFA10_000013 MSCV_0019676 - - ; clinvar; - - - -
./. 1 - - c.*1011A>G p.(=) - - - - 2 Unknown - g.240899524T>C - - - NDUFA10_000012 MSCV_0019675 - - ; clinvar; - - - -
./. 1 - - c.*1129G>A p.(=) - - - - 2 Unknown - g.240899406C>T - - - NDUFA10_000011 MSCV_0019674 - - ; clinvar; - - - -
./. 1 - - c.*1189C>T p.(=) - - - - 2 Unknown - g.240899346G>A - - - NDUFA10_000010 MSCV_0019673 - - ; clinvar; - - - -
./. 1 - - c.*1212T>C p.(=) - - - - 2 Unknown - g.240899323A>G - - - NDUFA10_000009 MSCV_0019672 - - ; clinvar; - - - -
./. 1 - - c.*1214C>T p.(=) - - - - 2 Unknown - g.240899321G>A - - - NDUFA10_000008 MSCV_0019671 - - ; clinvar; - - - -
./. 1 - - c.*1229C>G p.(=) - - - - 2 Unknown - g.240899306G>C - - - NDUFA10_000007 MSCV_0019670 - - ; clinvar; - - - -
./. 1 - - c.*1262C>T p.(=) - - - - 2 Unknown - g.240899273G>A - - - NDUFA10_000006 MSCV_0019669 - - ; clinvar; - - - -
./. 1 - - c.*1884G>C p.(=) - - - - 2 Unknown - g.240898651C>G - - - NDUFA10_000005 MSCV_0019668 - - ; clinvar; - - - -
./. 1 - - c.*1894_*1914delinsGGG p.(=) - - - - 2 Unknown - g.240898621_240898641delinsCCC - - - NDUFA10_000004 MSCV_0019667 - - ; clinvar; - - - -
./. 1 - - c.*1915G>A p.(=) - - - - 2 Unknown - g.240898620C>T - - - NDUFA10_000030 MSCV_0019666 - - ; clinvar; - - - -
./. 1 - - c.*1923_*1924insA p.(=) - - - - 2 Unknown - g.240898611_240898612insT - - - NDUFA10_000029 MSCV_0019665 - - ; clinvar; - - - -
./. 1 - - c.*1957G>A p.(=) - - - - 2 Unknown - g.240898578C>T - - - NDUFA10_000057 MSCV_0019664 - - ; clinvar; - - - -
./. 1 - - c.*2042A>C p.(=) - - - - 2 Unknown - g.240898493T>G - - - NDUFA10_000056 MSCV_0019663 - - ; clinvar; - - - -
./. 1 - - c.*2111G>A p.(=) - - - - 2 Unknown - g.240898424C>T - - - NDUFA10_000055 MSCV_0019662 - - ; clinvar; - - - -
./. 1 - - c.*2149C>T p.(=) - - - - 2 Unknown - g.240898386G>A - - - NDUFA10_000054 MSCV_0019661 - - ; clinvar; - - - -
./. 1 - - c.*2192T>A p.(=) - - - - 2 Unknown - g.240898343A>T - - - NDUFA10_000053 MSCV_0019660 - - ; clinvar; - - - -
./. 1 - - c.*2297T>G p.(=) - - - - 2 Unknown - g.240898238A>C - - - NDUFA10_000052 MSCV_0019659 - - ; clinvar; - - - -
./. 1 - - c.*2309G>A p.(=) - - - - 2 Unknown - g.240898226C>T - - - NDUFA10_000051 MSCV_0019658 - - ; clinvar; - - - -
./. 1 - - c.*2397A>G p.(=) - - - - 2 Unknown - g.240898138T>C - - - NDUFA10_000050 MSCV_0019657 - - ; clinvar; - - - -
./. 1 - - c.*2495C>T p.(=) - - - - 2 Unknown - g.240898040G>A - - - NDUFA10_000049 MSCV_0019656 - - ; clinvar; - - - -
./. 1 - - c.*2602C>T p.(=) - - - - 2 Unknown - g.240897933G>A - - - NDUFA10_000048 MSCV_0019655 - - ; clinvar; - - - -
./. 1 - - c.*2649G>A p.(=) - - - - 2 Unknown - g.240897886C>T - - - NDUFA10_000047 MSCV_0019654 - - ; clinvar; - - - -
./. 1 - - c.*2685C>A p.(=) - - - - 2 Unknown - g.240897850G>T - - - NDUFA10_000046 MSCV_0019653 - - ; clinvar; - - - -
./. 1 - - c.*2997G>A p.(=) - - - - 2 Unknown - g.240897538C>T - - - NDUFA10_000045 MSCV_0019652 - - ; clinvar; - - - -
./. 1 - - c.*3067C>T p.(=) - - - - 2 Unknown - g.240897468G>A - - - NDUFA10_000060 MSCV_0019651 - - ; clinvar; - - - -
./. 1 - - c.*3075T>G p.(=) - - - - 2 Unknown - g.240897460A>C - - - NDUFA10_000059 MSCV_0019650 - - ; clinvar; - - - -
./. 1 - - c.*3098A>T p.(=) - - - - 2 Unknown - g.240897437T>A - - - NDUFA10_000058 MSCV_0019649 - - ; clinvar; - - - -
./. 1 - - c.*3113G>A p.(=) - - - - 2 Unknown - g.240897422C>T - - - NDUFA10_000064 MSCV_0019648 - - ; clinvar; - - - -
./. 1 - - c.*3141C>T p.(=) - - - - 2 Unknown - g.240897394G>A - - - NDUFA10_000063 MSCV_0019647 - - ; clinvar; - - - -
./. 1 - - c.*3204C>T p.(=) - - - - 2 Unknown - g.240897331G>A - - - NDUFA10_000062 MSCV_0019646 - - ; clinvar; - - - -
./. 1 - - c.*3205G>A p.(=) - - - - 2 Unknown - g.240897330C>T - - - NDUFA10_000061 MSCV_0019645 - - ; clinvar; - - - -
./. 1 - - c.*3349G>A p.(=) - - - - 2 Unknown - g.240897186C>T - - - NDUFA10_000067 MSCV_0019644 - - ; clinvar; - - - -
./. 1 - - c.*3408T>C p.(=) - - - - 2 Unknown - g.240897127A>G - - - NDUFA10_000066 MSCV_0019643 - - ; clinvar; - - - -
./. 1 - - c.*3450G>A p.(=) - - - - 2 Unknown - g.240897085C>T - - - NDUFA10_000065 MSCV_0019642 - - ; clinvar; - - - -
./. 1 - - c.*3557G>A p.(=) - - - - 2 Unknown - g.240896978C>T - - - NDUFA10_000068 MSCV_0019641 - - ; clinvar; - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium