Full data view for 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.
Legend  

Effect     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Date     

Template     

Technique     

Tissue     

Description     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Consanguinity     

Age of death     

Cause of death     

Remarks     

Panel size     

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

Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium