Unique variants in gene NDUFA1

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the NM_004541.3 transcript reference sequence.

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

Reported     

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     
+/+ 1 - 1/3 c.22G>C p.(=) probably_damaging(0.998) missense_variant - tolerated(0.09) subst g.119005896G>C - 5.450 - NDUFA1_000003 rs104894884 - ; clinVar; Ensembl; 17262856 - - LOVD
+/+ 1 - 1/3 c.94G>C p.(=) probably_damaging(0.998) missense_variant - tolerated(0.1) subst g.119005968G>C - 3.790 - NDUFA1_000001 rs1801316 - ; clinvar; 19185523;21596602 - - LOVD
+/+ 1 - 2/3 c.111G>C p.(=) probably_damaging(0.943) missense_variant - tolerated(0.06) subst g.119007275G>C - -2.110 - NDUFA1_000002 rs104894885 - ; clinVar; Ensembl; 17262856 - - LOVD
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium