Full data view for 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     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Date     

Template     

Technique     

Tissue     

Description     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Consanguinity     

Age of death     

Cause of death     

Remarks     

Panel size     

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

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium