View unique variants in gene NDUFAF6

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

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

Reported     

Location     

Exon     

AscendingDNA change (cDNA)     

RNA change     

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.206A>T r.(?) p.(Asp69Val) - - - - 8 Unknown - g.96044231A>T - - - NDUFAF6_000010 MSCV_0022440 - - ; clinvar; - - - -
./. 1 - - c.226T>C r.(?) p.(Ser76Pro) - - - - 8 Unknown - g.96044251T>C - - - NDUFAF6_000002 MSCV_0022441 - - ; clinvar; - - - -
+/+, ./. 2 - 2/11 c.296A>G r.(?) p.(Gln99Arg) - missense_variant,splice_region_variant - - 8 Unknown subst g.96044321A>G - 4.450 - NDUFAF6_000001 MSCV_0001253 rs137853184 - ; clinvar, , clinVar; Ensembl; 18614015 - - -
./. 1 - - c.328G>T r.(?) p.(Gly110*) - - - - 8 Unknown - g.96047712G>T - - - NDUFAF6_000003 MSCV_0022443 - - ; clinvar; - - - -
./. 1 - - c.371T>C r.(?) p.(Ile124Thr) - - - - 8 Unknown - g.96047755T>C - - - NDUFAF6_000004 MSCV_0022444 - - ; clinvar; - - - -
./. 1 - - c.532G>C r.(?) p.(Ala178Pro) - - - - 8 Unknown - g.96057827G>C - - - NDUFAF6_000005 MSCV_0022445 - - ; clinvar; - - - -
./. 1 - - c.611C>T r.(?) p.(Ala204Val) - - - - 8 Unknown - g.96059252C>T - - - NDUFAF6_000006 MSCV_0022446 - - ; clinvar; - - - -
./. 1 - - c.719G>T r.(?) p.(Gly240Val) - - - - 8 Unknown - g.96060689G>T - - - NDUFAF6_000007 MSCV_0022447 - - ; clinvar; - - - -
./. 1 - - c.805C>G r.(?) p.(His269Asp) - - - - 8 Unknown - g.96060775C>G - - - NDUFAF6_000008 MSCV_0022448 - - ; clinvar; - - - -
./. 1 - - c.820A>G r.(?) p.(Arg274Gly) - - - - 8 Unknown - g.96064405A>G - - - NDUFAF6_000009 MSCV_0022449 - - ; clinvar; - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium