Full data view for gene CPS1

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

112 entries on 2 pages. Showing entries 1 - 100.
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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     

MSCV     

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     
./. - - c.3+12G>A p.(=) - - - - Unknown - g.211342502G>A - - - CPS1_000103 MSCV_0019486 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.4-113G>A p.(=) - - - - Unknown - g.211421330G>A - - - CPS1_000085 MSCV_0019487 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.4-61A>G p.(=) - - - - Unknown - g.211421382A>G - - - CPS1_000086 MSCV_0019488 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.4-14T>G p.(=) - - - - Unknown - g.211421429T>G - - - CPS1_000087 MSCV_0019489 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.13_14insTCT p.(Ile5_Lys6insPhe) - - - - Unknown - g.211421452_211421453insTCT - - - CPS1_000088 MSCV_0019490 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.23C>T p.(Thr8Met) - - - - Unknown - g.211421462C>T - - - CPS1_000089 MSCV_0019491 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 3/5 c.148C>T p.? - stop_gained - - Unknown subst g.211438025C>T - 4.720 - CPS1_000007 MSCV_0000856 rs121912593 - ; clinVar; Ensembl; 17310273 - - - - - - - - - - - - - - - - - - -
./. - - c.148C>T p.(Gln50*) - - - - Unknown - g.211438025C>T - - - CPS1_000007 MSCV_0000856 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.204C>T p.(=) - - - - Unknown - g.211438081C>T - - - CPS1_000090 MSCV_0019493 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.213C>T p.(=) - - - - Unknown - g.211438090C>T - - - CPS1_000091 MSCV_0019494 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.226_227insAAGTGGTT p.(Phe79Lysfs*80) - - - - Unknown - g.211438103_211438104insAAGTGGTT - - - CPS1_000092 MSCV_0019495 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.254+5G>A p.? - - - - Unknown - g.211438136G>A - - - CPS1_000093 MSCV_0019496 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.313C>A p.(Pro105Thr) - - - - Unknown - g.211441128C>A - - - CPS1_000094 MSCV_0019497 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.320_321insTGGGAA p.(Asn109_Gly110dup) - - - - Unknown - g.211441135_211441136insTGGGAA - - - CPS1_000095 MSCV_0019498 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.467G>A p.(Gly156Glu) - - - - Unknown - g.211442212G>A - - - CPS1_000096 MSCV_0019499 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.504T>C p.(=) - - - - Unknown - g.211444452T>C - - - CPS1_000097 MSCV_0019500 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.505G>T p.(Gly169*) - - - - Unknown - g.211444453G>T - - - CPS1_000098 MSCV_0019501 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.546+9A>G p.(=) - - - - Unknown - g.211444503A>G - - - CPS1_000099 MSCV_0019502 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.547-4A>T p.? - - - - Unknown - g.211447337A>T - - - CPS1_000100 MSCV_0019503 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.655G>A p.(Gly219Ser) - - - - Unknown - g.211452797G>A - - - CPS1_000101 MSCV_0019504 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.715C>T p.(Arg239Cys) - - - - Unknown - g.211452857C>T - - - CPS1_000102 MSCV_0019505 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.801C>T p.(=) - - - - Unknown - g.211454901C>T - - - CPS1_000065 MSCV_0019506 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.955A>G p.(Met319Val) - - - - Unknown - g.211455620A>G - - - CPS1_000066 MSCV_0019507 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.963C>G p.(Asn321Lys) - - - - Unknown - g.211455628C>G - - - CPS1_000067 MSCV_0019508 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.966-6C>T p.(=) - - - - Unknown - g.211456549C>T - - - CPS1_000068 MSCV_0019509 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 11/39 c.1028A>G p.? probably_damaging(0.999) missense_variant - deleterious(0) Unknown subst g.211456617A>G - 5.770 - CPS1_000001 MSCV_0000857 rs28940283 - ; clinVar; Ensembl; 11474210 - - - - - - - - - - - - - - - - - - -
./. - - c.1028A>G p.(His343Arg) - - - - Unknown - g.211456617A>G - - - CPS1_000001 MSCV_0000857 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1039T>G p.(Leu347Val) - - - - Unknown - g.211456628T>G - - - CPS1_000069 MSCV_0019511 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1048A>G p.(Thr350Ala) - - - - Unknown - g.211456637A>G - - - CPS1_000070 MSCV_0019512 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1048A>T p.(Thr350Ser) - - - - Unknown - g.211456637A>T - - - CPS1_000071 MSCV_0019513 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1050C>T p.(=) - - - - Unknown - g.211456639C>T - - - CPS1_000072 MSCV_0019514 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1086C>G p.(=) - - - - Unknown - g.211456675C>G - - - CPS1_000073 MSCV_0019515 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1105-7C>T p.(=) - - - - Unknown - g.211457596C>T - - - CPS1_000074 MSCV_0019516 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1183-5T>C p.? - - - - Unknown - g.211459227T>C - - - CPS1_000075 MSCV_0019517 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1325G>A p.(Gly442Asp) - - - - Unknown - g.211460254G>A - - - CPS1_000076 MSCV_0019518 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1377+7G>A p.(=) - - - - Unknown - g.211460313G>A - - - CPS1_000077 MSCV_0019519 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1455G>A p.(=) - - - - Unknown - g.211464173G>A - - - CPS1_000078 MSCV_0019520 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1496C>T p.(Thr499Ile) - - - - Unknown - g.211464214C>T - - - CPS1_000079 MSCV_0019521 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1587A>G p.(=) - - - - Unknown - g.211465298A>G - - - CPS1_000080 MSCV_0019522 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 16/39 c.1649C>T p.? possibly_damaging(0.755) missense_variant - deleterious(0) Unknown subst g.211465360C>T - 5.090 - CPS1_000002 MSCV_0000858 rs121912592 - ; clinVar; Ensembl; 9711878 - - - - - - - - - - - - - - - - - - -
./. - - c.1649C>T p.(Thr550Met) - - - - Unknown - g.211465360C>T - - - CPS1_000002 MSCV_0000858 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1930C>T p.(Arg644*) - - - - Unknown - g.211469901C>T - - - CPS1_000017 MSCV_0019524 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
?/? - 18/39 c.1936G>T p.? benign(0.007) missense_variant - tolerated(0.14) Unknown subst g.211469907G>T - 3.640 - CPS1_000008 MSCV_0002849 rs142693704 - ; - - - - - - - - - - - - - - - - - - - -
./. - - c.2000-8A>T p.(=) - - - - Unknown - g.211471447A>T - - - CPS1_000018 MSCV_0019525 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.2210+6A>T p.(=) - - - - Unknown - g.211471671A>T - - - CPS1_000019 MSCV_0019526 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.2211-15G>T p.(=) - - - - Unknown - g.211473070G>T - - - CPS1_000020 MSCV_0019527 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.2283C>A p.(=) - - - - Unknown - g.211473157C>A - - - CPS1_000021 MSCV_0019528 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.2283C>T p.(=) - - - - Unknown - g.211473157C>T - - - CPS1_000022 MSCV_0019529 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 20/39 c.2377C>T p.? - stop_gained - - Unknown subst g.211473251C>T - 1.280 - CPS1_000003 MSCV_0000859 rs121912596 - ; clinVar; Ensembl; 17310273 - - - - - - - - - - - - - - - - - - -
./. - - c.2377C>T p.(Arg793*) - - - - Unknown - g.211473251C>T - - - CPS1_000003 MSCV_0000859 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.2394G>C p.(Met798Ile) - - - - Unknown - g.211473268G>C - - - CPS1_000023 MSCV_0019531 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.2412C>A p.(=) - - - - Unknown - g.211476843C>A - - - CPS1_000024 MSCV_0019532 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.2425C>T p.(Arg809Cys) - - - - Unknown - g.211476856C>T - - - CPS1_000025 MSCV_0019533 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.2439G>A p.(=) - - - - Unknown - g.211476870G>A - - - CPS1_000026 MSCV_0019534 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.2459G>A p.(Arg820Gln) - - - - Unknown - g.211476890G>A - - - CPS1_000027 MSCV_0019535 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.2466C>T p.(=) - - - - Unknown - g.211476897C>T - - - CPS1_000028 MSCV_0019536 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
?/? - 22/39 c.2641A>G p.? benign(0.189) missense_variant - deleterious(0.01) Unknown subst g.211481201A>G - 5.520 - CPS1_000009 MSCV_0002851 rs147062907 - ; - - - - - - - - - - - - - - - - - - - -
./. - - c.2697C>G p.(=) - - - - Unknown - g.211481257C>G - - - CPS1_000029 MSCV_0019537 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.2767A>G p.(Ile923Val) - - - - Unknown - g.211502487A>G - - - CPS1_000030 MSCV_0019538 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.2848-18A>G p.(=) - - - - Unknown - g.211503856A>G - - - CPS1_000031 MSCV_0019539 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.2863G>A p.(Ala955Thr) - - - - Unknown - g.211503889G>A - - - CPS1_000032 MSCV_0019540 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.2901_2913del p.(Tyr968Serfs*11) - - - - Unknown - g.211503927_211503939del - - - CPS1_000033 MSCV_0019541 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 25/39 c.2963G>A p.? probably_damaging(1) missense_variant - deleterious(0) Unknown subst g.211504769G>A - 5.420 - CPS1_000004 MSCV_0000860 rs121912595 - ; clinVar; Ensembl; 17310273 - - - - - - - - - - - - - - - - - - -
./. - - c.2963G>A p.(Gly988Asp) - - - - Unknown - g.211504769G>A - - - CPS1_000004 MSCV_0000860 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 25/39 c.2963G>T p.? probably_damaging(1) missense_variant - deleterious(0) Unknown subst g.211504769G>T - 5.420 - CPS1_000005 MSCV_0000861 rs121912595 - ; clinVar; Ensembl; 17310273 - - - - - - - - - - - - - - - - - - -
./. - - c.3048_3050del p.(Val1019del) - - - - Unknown - g.211507278_211507280del - - - CPS1_000034 MSCV_0019543 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.3139C>T p.(=) - - - - Unknown - g.211507369C>T - - - CPS1_000035 MSCV_0019544 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.3159+11del p.(=) - - - - Unknown - g.211507400del - - - CPS1_000036 MSCV_0019545 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.3373G>A p.(Ala1125Thr) - - - - Unknown - g.211513215G>A - - - CPS1_000037 MSCV_0019546 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.3482C>T p.(Ala1161Val) - - - - Unknown - g.211515146C>T - - - CPS1_000038 MSCV_0019547 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.3499-8C>T p.(=) - - - - Unknown - g.211518741C>T - - - CPS1_000039 MSCV_0019548 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.3499-7G>A p.(=) - - - - Unknown - g.211518742G>A - - - CPS1_000081 MSCV_0019549 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.3576+7G>A p.(=) - - - - Unknown - g.211518833G>A - - - CPS1_000082 MSCV_0019550 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.3644T>C p.(Met1215Thr) - - - - Unknown - g.211521316T>C - - - CPS1_000083 MSCV_0019551 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
?/? - 31/39 c.3661A>G p.? benign(0.036) missense_variant - deleterious(0.02) Unknown subst g.211521333A>G - 4.940 - CPS1_000010 MSCV_0002854 rs141373204 - ; - - - - - - - - - - - - - - - - - - - -
./. - - c.3661A>G p.(Ile1221Val) - - - - Unknown - g.211521333A>G - - - CPS1_000010 MSCV_0002854 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.3741C>T p.(=) - - - - Unknown - g.211523379C>T - - - CPS1_000084 MSCV_0019553 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.3875A>T p.(Glu1292Val) - - - - Unknown - g.211525309A>T - - - CPS1_000040 MSCV_0019554 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.3892C>T p.(His1298Tyr) - - - - Unknown - g.211525326C>T - - - CPS1_000041 MSCV_0019555 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.3946-19del p.(=) - - - - Unknown - g.211527828del - - - CPS1_000042 MSCV_0019556 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.3946-19_3946-18del p.(=) - - - - Unknown - g.211527828_211527829del - - - CPS1_000043 MSCV_0019557 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.3998G>A p.(Cys1333Tyr) - - - - Unknown - g.211527899G>A - - - CPS1_000044 MSCV_0019558 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.4086G>A p.(=) - - - - Unknown - g.211532975G>A - - - CPS1_000045 MSCV_0019559 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.4144G>A p.(Gly1382Ser) - - - - Unknown - g.211539650G>A - - - CPS1_000046 MSCV_0019560 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+?/+? - 37/39 c.4214A>C p.? benign(0.015) missense_variant - tolerated(0.96) Unknown subst g.211540486A>C - 6.080 - CPS1_000006 MSCV_0000862 rs121912594 - ; clinVar; Ensembl; 14718356;21767969;15465784;16708072;20154341;11407344 - - - - - - - - - - - - - - - - - - -
./. - - c.4214A>C p.(Asn1405Thr) - - - - Unknown - g.211540486A>C - - - CPS1_000006 MSCV_0000862 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
?/? - 37/39 c.4235C>A p.? benign(0.01) missense_variant - tolerated(0.25) Unknown subst g.211540507C>A - 5.200 - CPS1_000011 MSCV_0002856 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 MSCV_0005209 rs1047891 - ; ensembl; - - - - - - - - - - - - - - - - - - - -
./. - - c.4235C>A p.(Thr1412Asn) - - - - Unknown - g.211540507C>A - - - CPS1_000011 MSCV_0002856 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.4270C>T p.(Pro1424Ser) - - - - Unknown - g.211540542C>T - - - CPS1_000047 MSCV_0019563 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.4278C>G p.(=) - - - - Unknown - g.211540550C>G - - - CPS1_000048 MSCV_0019564 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.4293-10A>G p.(=) - - - - Unknown - g.211541721A>G - - - CPS1_000049 MSCV_0019565 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.4422+4T>A p.? - - - - Unknown - g.211541864T>A - - - CPS1_000050 MSCV_0019566 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.*5G>A p.(=) - - - - Unknown - g.211542714G>A - - - CPS1_000051 MSCV_0019567 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.*74T>C p.(=) - - - - Unknown - g.211542783T>C - - - CPS1_000052 MSCV_0019568 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.*187C>T p.(=) - - - - Unknown - g.211542896C>T - - - CPS1_000053 MSCV_0019569 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.*235A>T p.(=) - - - - Unknown - g.211542944A>T - - - CPS1_000054 MSCV_0019570 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.*311A>G p.(=) - - - - Unknown - g.211543020A>G - - - CPS1_000055 MSCV_0019571 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.*346T>C p.(=) - - - - Unknown - g.211543055T>C - - - CPS1_000056 MSCV_0019572 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.*380C>G p.(=) - - - - Unknown - g.211543089C>G - - - CPS1_000057 MSCV_0019573 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium