View unique variants in gene NDUFS6

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the NM_004553.4 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     

Variant_disease     

Owner     
./. 1 - - c.-12C>T p.(=) - - - - 5 Unknown - g.1801520C>T - - - NDUFS6_000013 MSCV_0021290 - - ; clinvar; - - - - -
./. 1 - - c.24C>T p.(=) - - - - 5 Unknown - g.1801555C>T - - - NDUFS6_000010 MSCV_0021291 - - ; clinvar; - - - - -
./. 1 - - c.27G>C p.(=) - - - - 5 Unknown - g.1801558G>C - - - NDUFS6_000011 MSCV_0021292 - - ; clinvar; - - - - -
./. 1 - - c.155G>C p.(Arg52Thr) - - - - 5 Unknown - g.1802457G>C - - - NDUFS6_000012 MSCV_0021293 - - ; clinvar; - - - - -
./. 1 - - c.186+2T>A p.? - - - - 5 Unknown - g.1802490T>A - - - NDUFS6_000014 - - - ; clinvar; - - - - Lishuang Shen
./. 1 - - c.198C>T p.(=) - - - - 5 Unknown - g.1814464C>T - - - NDUFS6_000007 MSCV_0021294 - - ; clinvar; - - - - -
./. 1 - - c.310-15T>C p.(=) - - - - 5 Unknown - g.1815950T>C - - - NDUFS6_000008 MSCV_0021295 - - ; clinvar; - - - - -
+/+, ./. 2 - 4/4 c.344G>A p.(=), p.(Cys115Tyr) probably_damaging(1) missense_variant - -, deleterious(0) 5 Unknown subst g.1815999G>A - 4.440 - NDUFS6_000001 MSCV_0001016 rs267606913 - ; clinvar, , clinVar; Ensembl; 19259137 - - - -
./. 1 - - c.369C>T p.(=) - - - - 5 Unknown - g.1816024C>T - - - NDUFS6_000009 MSCV_0021297 - - ; clinvar; - - - - -
./. 1 - - c.*15C>T p.(=) - - - - 5 Unknown - g.1816045C>T - - - NDUFS6_000005 MSCV_0021298 - - ; clinvar; - - - - -
./. 1 - - c.*27A>G p.(=) - - - - 5 Unknown - g.1816057A>G - - - NDUFS6_000006 MSCV_0021299 - - ; clinvar; - - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium