View all transcript variants in gene NDUFS2

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

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

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     
+/+ - 6/13 c.683G>A p.(Arg228Gln) probably_damaging(1) missense_variant - deleterious(0) subst g.161179702G>A - 5.290 - NDUFS2_000001 rs121434427 - ; clinVar; Ensembl; 11220739 - - LOVD
+/+ - 6/13 c.686C>A p.(Pro229Gln) probably_damaging(1) missense_variant - deleterious(0) subst g.161179705C>A - 5.290 - NDUFS2_000002 rs121434428 - ; clinVar; Ensembl; 11220739 - - LOVD
+/+ - 12/13 c.1237T>C p.(Ser413Pro) probably_damaging(0.998) missense_variant - deleterious(0) subst g.161183463T>C - 5.530 - NDUFS2_000003 rs121434429 - ; clinVar; Ensembl; 11220739 - - LOVD
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium