View all transcript variants in gene NDUFS2

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

45 entries on 1 page. Showing entries 1 - 45.
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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     

Owner     
./. - - c.-240+1888G>A p.(=) - - - - 1 Unknown - g.161169165G>A - - - NDUFS2_000041 MSCV_0015564 - - ; clinvar; - - - -
./. - - c.-240+1888G>T p.(=) - - - - 1 Unknown - g.161169165G>T - - - NDUFS2_000042 MSCV_0015565 - - ; clinvar; - - - -
./. - - c.-240+1930G>A p.(=) - - - - 1 Unknown - g.161169207G>A - - - NDUFS2_000032 MSCV_0015566 - - ; clinvar; - - - -
./. - - c.-240+1978C>G p.(=) - - - - 1 Unknown - g.161169255C>G - - - NDUFS2_000033 MSCV_0015567 - - ; clinvar; - - - -
./. - - c.-218G>A p.(=) - - - - 1 Unknown - g.161171958G>A - - - NDUFS2_000034 MSCV_0015568 - - ; clinvar; - - - -
./. - - c.-159C>A p.(=) - - - - 1 Unknown - g.161172017C>A - - - NDUFS2_000035 MSCV_0015569 - - ; clinvar; - - - -
./. - - c.-156G>A p.(=) - - - - 1 Unknown - g.161172020G>A - - - NDUFS2_000036 MSCV_0015570 - - ; clinvar; - - - -
./. - - c.-28C>T p.(=) - - - - 1 Unknown - g.161172148C>T - - - NDUFS2_000037 MSCV_0015571 - - ; clinvar; - - - -
./. - - c.-20C>T p.(=) - - - - 1 Unknown - g.161172156C>T - - - NDUFS2_000038 MSCV_0015572 - - ; clinvar; - - - -
./. - - c.58C>A p.(Pro20Thr) - - - - 1 Unknown - g.161172233C>A - - - NDUFS2_000039 MSCV_0015573 - - ; clinvar; - - - -
./. - - c.95+14C>T p.(=) - - - - 1 Unknown - g.161172284C>T - - - NDUFS2_000040 MSCV_0015574 - - ; clinvar; - - - -
./. - - c.98G>A p.(Gly33Asp) - - - - 1 Unknown - g.161173229G>A - - - NDUFS2_000024 MSCV_0015575 - - ; clinvar; - - - -
./. - - c.162A>G p.(=) - - - - 1 Unknown - g.161173293A>G - - - NDUFS2_000025 MSCV_0015576 - - ; clinvar; - - - -
./. - - c.268G>A p.(Ala90Thr) - - - - 1 Unknown - g.161176262G>A - - - NDUFS2_000026 MSCV_0015577 - - ; clinvar; - - - -
./. - - c.337A>G p.(Ile113Val) - - - - 1 Unknown - g.161176331A>G - - - NDUFS2_000027 MSCV_0015578 - - ; clinvar; - - - -
./. - - c.441C>T p.(=) - - - - 1 Unknown - g.161179030C>T - - - NDUFS2_000028 MSCV_0015579 - - ; clinvar; - - - -
./. - - c.514+11C>T p.(=) - - - - 1 Unknown - g.161179114C>T - - - NDUFS2_000029 MSCV_0015580 - - ; clinvar; - - - -
./. - - c.515-3C>A p.? - - - - 1 Unknown - g.161179270C>A - - - NDUFS2_000030 MSCV_0015581 - - ; clinvar; - - - -
./. - - c.628-12C>T p.(=) - - - - 1 Unknown - g.161179635C>T - - - NDUFS2_000031 MSCV_0015582 - - ; clinvar; - - - -
+/+ - 6/13 c.683G>A p.(Arg228Gln) probably_damaging(1) missense_variant - deleterious(0) 1 Unknown subst g.161179702G>A - 5.290 - NDUFS2_000001 MSCV_0000081 rs121434427 - ; clinVar; Ensembl; 11220739 - - -
./. - - c.683G>A p.(Arg228Gln) - - - - 1 Unknown - g.161179702G>A - - - NDUFS2_000001 MSCV_0000081 - - ; clinvar; - - - -
+/+ - 6/13 c.686C>A p.(Pro229Gln) probably_damaging(1) missense_variant - deleterious(0) 1 Unknown subst g.161179705C>A - 5.290 - NDUFS2_000002 MSCV_0000082 rs121434428 - ; clinVar; Ensembl; 11220739 - - -
./. - - c.686C>A p.(Pro229Gln) - - - - 1 Unknown - g.161179705C>A - - - NDUFS2_000002 MSCV_0000082 - - ; clinvar; - - - -
./. - - c.702+12_702+13insCCGG p.(=) - - - - 1 Unknown - g.161179733_161179734insCCGG - - - NDUFS2_000008 MSCV_0015585 - - ; clinvar; - - - -
./. - - c.867T>C p.(=) - - - - 1 Unknown - g.161180381T>C - - - NDUFS2_000009 MSCV_0015586 - - ; clinvar; - - - -
./. - - c.903C>T p.(=) - - - - 1 Unknown - g.161180417C>T - - - NDUFS2_000010 MSCV_0015587 - - ; clinvar; - - - -
./. - - c.959T>C p.(Val320Ala) - - - - 1 Unknown - g.161180473T>C - - - NDUFS2_000011 MSCV_0015588 - - ; clinvar; - - - -
./. - - c.986+12A>G p.(=) - - - - 1 Unknown - g.161180512A>G - - - NDUFS2_000012 MSCV_0015589 - - ; clinvar; - - - -
./. - - c.1054C>G p.(Pro352Ala) - - - - 1 Unknown - g.161182208C>G - - - NDUFS2_000013 MSCV_0015590 - - ; clinvar; - - - -
./. - - c.1212+7A>G p.(=) - - - - 1 Unknown - g.161183272A>G - - - NDUFS2_000014 MSCV_0015591 - - ; clinvar; - - - -
./. - - c.1213-10del p.(=) - - - - 1 Unknown - g.161183429del - - - NDUFS2_000015 MSCV_0015592 - - ; clinvar; - - - -
./. - - c.1215A>G p.(=) - - - - 1 Unknown - g.161183441A>G - - - NDUFS2_000016 MSCV_0015593 - - ; clinvar; - - - -
+/+ - 12/13 c.1237T>C p.(Ser413Pro) probably_damaging(0.998) missense_variant - deleterious(0) 1 Unknown subst g.161183463T>C - 5.530 - NDUFS2_000003 MSCV_0000083 rs121434429 - ; clinVar; Ensembl; 11220739 - - -
./. - - c.1237T>C p.(Ser413Pro) - - - - 1 Unknown - g.161183463T>C - - - NDUFS2_000003 MSCV_0000083 - - ; clinvar; - - - -
./. - - c.1290C>T p.(=) - - - - 1 Unknown - g.161183516C>T - - - NDUFS2_000017 MSCV_0015595 - - ; clinvar; - - - -
./. - - c.1354+5G>A p.? - - - - 1 Unknown - g.161183716G>A - - - NDUFS2_000018 MSCV_0015596 - - ; clinvar; - - - -
./. - - c.1354+10C>A p.(=) - - - - 1 Unknown - g.161183721C>A - - - NDUFS2_000019 MSCV_0015597 - - ; clinvar; - - - -
./. - - c.*71_*76delinsTGCGTCTGTGTGTG p.(=) - - - - 1 Unknown - g.161184054_161184059delinsTGCGTCTGTGTGTG - - - NDUFS2_000020 MSCV_0015598 - - ; clinvar; - - - -
./. - - c.*76_*77insTG p.(=) - - - - 1 Unknown - g.161184059_161184060insTG - - - NDUFS2_000021 MSCV_0015599 - - ; clinvar; - - - -
./. - - c.*76_*77insTGTGTG p.(=) - - - - 1 Unknown - g.161184059_161184060insTGTGTG - - - NDUFS2_000022 MSCV_0015600 - - ; clinvar; - - - -
./. - - c.*77_*78del p.(=) - - - - 1 Unknown - g.161184060_161184061del - - - NDUFS2_000023 MSCV_0015601 - - ; clinvar; - - - -
./. - - c.*106_*107insTA p.(=) - - - - 1 Unknown - g.161184089_161184090insTA - - - NDUFS2_000004 MSCV_0015602 - - ; clinvar; - - - -
./. - - c.*108A>T p.(=) - - - - 1 Unknown - g.161184091A>T - - - NDUFS2_000005 MSCV_0015603 - - ; clinvar; - - - -
./. - - c.*114A>G p.(=) - - - - 1 Unknown - g.161184097A>G - - - NDUFS2_000006 MSCV_0015604 - - ; clinvar; - - - -
./. - - c.*187G>A p.(=) - - - - 1 Unknown - g.161184170G>A - - - NDUFS2_000007 MSCV_0015605 - - ; clinvar; - - - -
Legend  

Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium