View unique variants in gene DARS

Information The variants shown are described using the NM_001349.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Reported     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
?/? 1 c.822G>A p.(=) synonymous_variant - 10/16 - r.(=) - subst g.136678160C>T - 1.840 - DARS_000002 rs112205661 - ; Ensembl; - - - LOVD
?/? 1 c.1480C>G p.(Arg494Gly) missense_variant - 16/16 probably_damaging(1) r.(?) deleterious(0) subst g.136664912G>C - 5.350 - DARS_000001 rs147077598 - ; Ensembl; 23643384 - - LOVD
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