All transcript variants in gene CPS1

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

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

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     
+/+ - 3/5 c.148C>T p.? - stop_gained - - subst g.211438025C>T - 4.720 - CPS1_000007 rs121912593 - ; clinVar; Ensembl; 17310273 - - LOVD
+/+ - 11/39 c.1028A>G p.? probably_damaging(0.999) missense_variant - deleterious(0) subst g.211456617A>G - 5.770 - CPS1_000001 rs28940283 - ; clinVar; Ensembl; 11474210 - - LOVD
+/+ - 16/39 c.1649C>T p.? possibly_damaging(0.755) missense_variant - deleterious(0) subst g.211465360C>T - 5.090 - CPS1_000002 rs121912592 - ; clinVar; Ensembl; 9711878 - - LOVD
?/? - 18/39 c.1936G>T p.? benign(0.007) missense_variant - tolerated(0.14) subst g.211469907G>T - 3.640 - CPS1_000008 rs142693704 - ; - - - LOVD
+/+ - 20/39 c.2377C>T p.? - stop_gained - - subst g.211473251C>T - 1.280 - CPS1_000003 rs121912596 - ; clinVar; Ensembl; 17310273 - - LOVD
?/? - 22/39 c.2641A>G p.? benign(0.189) missense_variant - deleterious(0.01) subst g.211481201A>G - 5.520 - CPS1_000009 rs147062907 - ; - - - LOVD
+/+ - 25/39 c.2963G>A p.? probably_damaging(1) missense_variant - deleterious(0) subst g.211504769G>A - 5.420 - CPS1_000004 rs121912595 - ; clinVar; Ensembl; 17310273 - - LOVD
+/+ - 25/39 c.2963G>T p.? probably_damaging(1) missense_variant - deleterious(0) subst g.211504769G>T - 5.420 - CPS1_000005 rs121912595 - ; clinVar; Ensembl; 17310273 - - LOVD
?/? - 31/39 c.3661A>G p.? benign(0.036) missense_variant - deleterious(0.02) subst g.211521333A>G - 4.940 - CPS1_000010 rs141373204 - ; - - - LOVD
+?/+? - 37/39 c.4214A>C p.? benign(0.015) missense_variant - tolerated(0.96) subst g.211540486A>C - 6.080 - CPS1_000006 rs121912594 - ; clinVar; Ensembl; 14718356;21767969;15465784;16708072;20154341;11407344 - - LOVD
?/? - 37/39 c.4235C>A p.? benign(0.01) missense_variant - tolerated(0.25) subst g.211540507C>A - 5.200 - CPS1_000011 rs1047891 - ; - - - LOVD
./. - 37/39 c.4235C>A p.(Thr1412Asn) benign(0.01) missense_variant - tolerated(0.25) subst g.211540507C>A - 5.200 - CPS1_000011 rs1047891 - ; ensembl; - - - LOVD
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium