View all transcript variants in gene DLAT

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the NM_001931.4 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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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     

Variant_disease     

Owner     
./. - - c.55G>C p.(Glu19Gln) - - - - 11 Unknown - g.111896251G>C - - - DLAT_000007 MSCV_0016864 - - ; clinvar; - - - - -
./. - - c.144G>A p.(=) - - - - 11 Unknown - g.111896340G>A - - - DLAT_000008 MSCV_0016865 - - ; clinvar; - - - - -
./. - - c.355A>G p.(Ile119Val) - - - - 11 Unknown - g.111896997A>G - - - DLAT_000002 MSCV_0016866 - - ; clinvar; - - - - -
./. - - c.381+6del p.(=) - - - - 11 Unknown - g.111897029del - - - DLAT_000003 MSCV_0016867 - - ; clinvar; - - - - -
./. - - c.393_394insA p.(Ala133Serfs*6) - - - - 11 Unknown - g.111899250_111899251insA - - - DLAT_000009 - - - ; clinvar; - - - - Lishuang Shen
./. - - c.412G>T p.(Glu138*) - - - - 11 Unknown - g.111899269G>T - - - DLAT_000010 - - - ; clinvar; - - - - Lishuang Shen
./. - - c.470T>G p.(Val157Gly) - - - - 11 Unknown - g.111899327T>G - - - DLAT_000011 - - - ; clinvar; - - - - Lishuang Shen
./. - - c.570A>G p.(=) - - - - 11 Unknown - g.111899579A>G - - - DLAT_000004 MSCV_0016868 - - ; clinvar; - - - - -
./. - - c.572C>T p.(Ala191Val) - - - - 11 Unknown - g.111899581C>T - - - DLAT_000012 - - - ; clinvar; - - - - Lishuang Shen
./. - - c.848_849del p.(Asp283Glyfs*22) - - - - 11 Unknown - g.111908057_111908058del - - - DLAT_000005 MSCV_0016869 - - ; clinvar; - - - - -
./. - - c.946C>T p.(Pro316Ser) - - - - 11 Unknown - g.111908155C>T - - - DLAT_000006 MSCV_0016870 - - ; clinvar; - - - - -
./. - - c.1202C>T p.(Pro401Leu) - - - - 11 Unknown - g.111915866C>T - - - DLAT_000013 - - - ; clinvar; - - - - Lishuang Shen
+/+ - 13/14 c.1728C>A p.(Phe576Leu) probably_damaging(0.999) missense_variant - deleterious(0.01) 11 Unknown subst g.111931812C>A - 0.837 - DLAT_000001 MSCV_0000461 rs119103240 - ; clinvar; ensembl; 16049940 - - - -
./. - - c.1728C>A p.(Phe576Leu) - - - - 11 Unknown - g.111931812C>A - - - DLAT_000001 MSCV_0000461 - - ; clinvar; - - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium