View all transcript variants in 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     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
./. - - c.3+12G>A p.(=) - - - - 2 Unknown - g.211342502G>A - - - CPS1_000103 MSCV_0019486 - - ; clinvar; - - - -
./. - - c.4-113G>A p.(=) - - - - 2 Unknown - g.211421330G>A - - - CPS1_000085 MSCV_0019487 - - ; clinvar; - - - -
./. - - c.4-61A>G p.(=) - - - - 2 Unknown - g.211421382A>G - - - CPS1_000086 MSCV_0019488 - - ; clinvar; - - - -
./. - - c.4-14T>G p.(=) - - - - 2 Unknown - g.211421429T>G - - - CPS1_000087 MSCV_0019489 - - ; clinvar; - - - -
./. - - c.13_14insTCT p.(Ile5_Lys6insPhe) - - - - 2 Unknown - g.211421452_211421453insTCT - - - CPS1_000088 MSCV_0019490 - - ; clinvar; - - - -
./. - - c.23C>T p.(Thr8Met) - - - - 2 Unknown - g.211421462C>T - - - CPS1_000089 MSCV_0019491 - - ; clinvar; - - - -
./. - - c.148C>T p.(Gln50*) - - - - 2 Unknown - g.211438025C>T - - - CPS1_000007 MSCV_0000856 - - ; clinvar; - - - -
+/+ - 3/5 c.148C>T p.? - stop_gained - - 2 Unknown subst g.211438025C>T - 4.720 - CPS1_000007 MSCV_0000856 rs121912593 - ; clinVar; Ensembl; 17310273 - - -
./. - - c.204C>T p.(=) - - - - 2 Unknown - g.211438081C>T - - - CPS1_000090 MSCV_0019493 - - ; clinvar; - - - -
./. - - c.213C>T p.(=) - - - - 2 Unknown - g.211438090C>T - - - CPS1_000091 MSCV_0019494 - - ; clinvar; - - - -
./. - - c.226_227insAAGTGGTT p.(Phe79Lysfs*80) - - - - 2 Unknown - g.211438103_211438104insAAGTGGTT - - - CPS1_000092 MSCV_0019495 - - ; clinvar; - - - -
./. - - c.254+5G>A p.? - - - - 2 Unknown - g.211438136G>A - - - CPS1_000093 MSCV_0019496 - - ; clinvar; - - - -
./. - - c.313C>A p.(Pro105Thr) - - - - 2 Unknown - g.211441128C>A - - - CPS1_000094 MSCV_0019497 - - ; clinvar; - - - -
./. - - c.320_321insTGGGAA p.(Asn109_Gly110dup) - - - - 2 Unknown - g.211441135_211441136insTGGGAA - - - CPS1_000095 MSCV_0019498 - - ; clinvar; - - - -
./. - - c.467G>A p.(Gly156Glu) - - - - 2 Unknown - g.211442212G>A - - - CPS1_000096 MSCV_0019499 - - ; clinvar; - - - -
./. - - c.504T>C p.(=) - - - - 2 Unknown - g.211444452T>C - - - CPS1_000097 MSCV_0019500 - - ; clinvar; - - - -
./. - - c.505G>T p.(Gly169*) - - - - 2 Unknown - g.211444453G>T - - - CPS1_000098 MSCV_0019501 - - ; clinvar; - - - -
./. - - c.546+9A>G p.(=) - - - - 2 Unknown - g.211444503A>G - - - CPS1_000099 MSCV_0019502 - - ; clinvar; - - - -
./. - - c.547-4A>T p.? - - - - 2 Unknown - g.211447337A>T - - - CPS1_000100 MSCV_0019503 - - ; clinvar; - - - -
./. - - c.655G>A p.(Gly219Ser) - - - - 2 Unknown - g.211452797G>A - - - CPS1_000101 MSCV_0019504 - - ; clinvar; - - - -
./. - - c.715C>T p.(Arg239Cys) - - - - 2 Unknown - g.211452857C>T - - - CPS1_000102 MSCV_0019505 - - ; clinvar; - - - -
./. - - c.801C>T p.(=) - - - - 2 Unknown - g.211454901C>T - - - CPS1_000065 MSCV_0019506 - - ; clinvar; - - - -
./. - - c.955A>G p.(Met319Val) - - - - 2 Unknown - g.211455620A>G - - - CPS1_000066 MSCV_0019507 - - ; clinvar; - - - -
./. - - c.963C>G p.(Asn321Lys) - - - - 2 Unknown - g.211455628C>G - - - CPS1_000067 MSCV_0019508 - - ; clinvar; - - - -
./. - - c.966-6C>T p.(=) - - - - 2 Unknown - g.211456549C>T - - - CPS1_000068 MSCV_0019509 - - ; clinvar; - - - -
./. - - c.1028A>G p.(His343Arg) - - - - 2 Unknown - g.211456617A>G - - - CPS1_000001 MSCV_0000857 - - ; clinvar; - - - -
+/+ - 11/39 c.1028A>G p.? probably_damaging(0.999) missense_variant - deleterious(0) 2 Unknown subst g.211456617A>G - 5.770 - CPS1_000001 MSCV_0000857 rs28940283 - ; clinVar; Ensembl; 11474210 - - -
./. - - c.1039T>G p.(Leu347Val) - - - - 2 Unknown - g.211456628T>G - - - CPS1_000069 MSCV_0019511 - - ; clinvar; - - - -
./. - - c.1048A>G p.(Thr350Ala) - - - - 2 Unknown - g.211456637A>G - - - CPS1_000070 MSCV_0019512 - - ; clinvar; - - - -
./. - - c.1048A>T p.(Thr350Ser) - - - - 2 Unknown - g.211456637A>T - - - CPS1_000071 MSCV_0019513 - - ; clinvar; - - - -
./. - - c.1050C>T p.(=) - - - - 2 Unknown - g.211456639C>T - - - CPS1_000072 MSCV_0019514 - - ; clinvar; - - - -
./. - - c.1086C>G p.(=) - - - - 2 Unknown - g.211456675C>G - - - CPS1_000073 MSCV_0019515 - - ; clinvar; - - - -
./. - - c.1105-7C>T p.(=) - - - - 2 Unknown - g.211457596C>T - - - CPS1_000074 MSCV_0019516 - - ; clinvar; - - - -
./. - - c.1183-5T>C p.? - - - - 2 Unknown - g.211459227T>C - - - CPS1_000075 MSCV_0019517 - - ; clinvar; - - - -
./. - - c.1325G>A p.(Gly442Asp) - - - - 2 Unknown - g.211460254G>A - - - CPS1_000076 MSCV_0019518 - - ; clinvar; - - - -
./. - - c.1377+7G>A p.(=) - - - - 2 Unknown - g.211460313G>A - - - CPS1_000077 MSCV_0019519 - - ; clinvar; - - - -
./. - - c.1455G>A p.(=) - - - - 2 Unknown - g.211464173G>A - - - CPS1_000078 MSCV_0019520 - - ; clinvar; - - - -
./. - - c.1496C>T p.(Thr499Ile) - - - - 2 Unknown - g.211464214C>T - - - CPS1_000079 MSCV_0019521 - - ; clinvar; - - - -
./. - - c.1587A>G p.(=) - - - - 2 Unknown - g.211465298A>G - - - CPS1_000080 MSCV_0019522 - - ; clinvar; - - - -
./. - - c.1649C>T p.(Thr550Met) - - - - 2 Unknown - g.211465360C>T - - - CPS1_000002 MSCV_0000858 - - ; clinvar; - - - -
+/+ - 16/39 c.1649C>T p.? possibly_damaging(0.755) missense_variant - deleterious(0) 2 Unknown subst g.211465360C>T - 5.090 - CPS1_000002 MSCV_0000858 rs121912592 - ; clinVar; Ensembl; 9711878 - - -
./. - - c.1930C>T p.(Arg644*) - - - - 2 Unknown - g.211469901C>T - - - CPS1_000017 MSCV_0019524 - - ; clinvar; - - - -
?/? - 18/39 c.1936G>T p.? benign(0.007) missense_variant - tolerated(0.14) 2 Unknown subst g.211469907G>T - 3.640 - CPS1_000008 MSCV_0002849 rs142693704 - ; - - - -
./. - - c.2000-8A>T p.(=) - - - - 2 Unknown - g.211471447A>T - - - CPS1_000018 MSCV_0019525 - - ; clinvar; - - - -
./. - - c.2210+6A>T p.(=) - - - - 2 Unknown - g.211471671A>T - - - CPS1_000019 MSCV_0019526 - - ; clinvar; - - - -
./. - - c.2211-15G>T p.(=) - - - - 2 Unknown - g.211473070G>T - - - CPS1_000020 MSCV_0019527 - - ; clinvar; - - - -
./. - - c.2283C>A p.(=) - - - - 2 Unknown - g.211473157C>A - - - CPS1_000021 MSCV_0019528 - - ; clinvar; - - - -
./. - - c.2283C>T p.(=) - - - - 2 Unknown - g.211473157C>T - - - CPS1_000022 MSCV_0019529 - - ; clinvar; - - - -
./. - - c.2377C>T p.(Arg793*) - - - - 2 Unknown - g.211473251C>T - - - CPS1_000003 MSCV_0000859 - - ; clinvar; - - - -
+/+ - 20/39 c.2377C>T p.? - stop_gained - - 2 Unknown subst g.211473251C>T - 1.280 - CPS1_000003 MSCV_0000859 rs121912596 - ; clinVar; Ensembl; 17310273 - - -
./. - - c.2394G>C p.(Met798Ile) - - - - 2 Unknown - g.211473268G>C - - - CPS1_000023 MSCV_0019531 - - ; clinvar; - - - -
./. - - c.2412C>A p.(=) - - - - 2 Unknown - g.211476843C>A - - - CPS1_000024 MSCV_0019532 - - ; clinvar; - - - -
./. - - c.2425C>T p.(Arg809Cys) - - - - 2 Unknown - g.211476856C>T - - - CPS1_000025 MSCV_0019533 - - ; clinvar; - - - -
./. - - c.2439G>A p.(=) - - - - 2 Unknown - g.211476870G>A - - - CPS1_000026 MSCV_0019534 - - ; clinvar; - - - -
./. - - c.2459G>A p.(Arg820Gln) - - - - 2 Unknown - g.211476890G>A - - - CPS1_000027 MSCV_0019535 - - ; clinvar; - - - -
./. - - c.2466C>T p.(=) - - - - 2 Unknown - g.211476897C>T - - - CPS1_000028 MSCV_0019536 - - ; clinvar; - - - -
?/? - 22/39 c.2641A>G p.? benign(0.189) missense_variant - deleterious(0.01) 2 Unknown subst g.211481201A>G - 5.520 - CPS1_000009 MSCV_0002851 rs147062907 - ; - - - -
./. - - c.2697C>G p.(=) - - - - 2 Unknown - g.211481257C>G - - - CPS1_000029 MSCV_0019537 - - ; clinvar; - - - -
./. - - c.2767A>G p.(Ile923Val) - - - - 2 Unknown - g.211502487A>G - - - CPS1_000030 MSCV_0019538 - - ; clinvar; - - - -
./. - - c.2848-18A>G p.(=) - - - - 2 Unknown - g.211503856A>G - - - CPS1_000031 MSCV_0019539 - - ; clinvar; - - - -
./. - - c.2863G>A p.(Ala955Thr) - - - - 2 Unknown - g.211503889G>A - - - CPS1_000032 MSCV_0019540 - - ; clinvar; - - - -
./. - - c.2901_2913del p.(Tyr968Serfs*11) - - - - 2 Unknown - g.211503927_211503939del - - - CPS1_000033 MSCV_0019541 - - ; clinvar; - - - -
./. - - c.2963G>A p.(Gly988Asp) - - - - 2 Unknown - g.211504769G>A - - - CPS1_000004 MSCV_0000860 - - ; clinvar; - - - -
+/+ - 25/39 c.2963G>A p.? probably_damaging(1) missense_variant - deleterious(0) 2 Unknown subst g.211504769G>A - 5.420 - CPS1_000004 MSCV_0000860 rs121912595 - ; clinVar; Ensembl; 17310273 - - -
+/+ - 25/39 c.2963G>T p.? probably_damaging(1) missense_variant - deleterious(0) 2 Unknown subst g.211504769G>T - 5.420 - CPS1_000005 MSCV_0000861 rs121912595 - ; clinVar; Ensembl; 17310273 - - -
./. - - c.3048_3050del p.(Val1019del) - - - - 2 Unknown - g.211507278_211507280del - - - CPS1_000034 MSCV_0019543 - - ; clinvar; - - - -
./. - - c.3139C>T p.(=) - - - - 2 Unknown - g.211507369C>T - - - CPS1_000035 MSCV_0019544 - - ; clinvar; - - - -
./. - - c.3159+11del p.(=) - - - - 2 Unknown - g.211507400del - - - CPS1_000036 MSCV_0019545 - - ; clinvar; - - - -
./. - - c.3373G>A p.(Ala1125Thr) - - - - 2 Unknown - g.211513215G>A - - - CPS1_000037 MSCV_0019546 - - ; clinvar; - - - -
./. - - c.3482C>T p.(Ala1161Val) - - - - 2 Unknown - g.211515146C>T - - - CPS1_000038 MSCV_0019547 - - ; clinvar; - - - -
./. - - c.3499-8C>T p.(=) - - - - 2 Unknown - g.211518741C>T - - - CPS1_000039 MSCV_0019548 - - ; clinvar; - - - -
./. - - c.3499-7G>A p.(=) - - - - 2 Unknown - g.211518742G>A - - - CPS1_000081 MSCV_0019549 - - ; clinvar; - - - -
./. - - c.3576+7G>A p.(=) - - - - 2 Unknown - g.211518833G>A - - - CPS1_000082 MSCV_0019550 - - ; clinvar; - - - -
./. - - c.3644T>C p.(Met1215Thr) - - - - 2 Unknown - g.211521316T>C - - - CPS1_000083 MSCV_0019551 - - ; clinvar; - - - -
?/? - 31/39 c.3661A>G p.? benign(0.036) missense_variant - deleterious(0.02) 2 Unknown subst g.211521333A>G - 4.940 - CPS1_000010 MSCV_0002854 rs141373204 - ; - - - -
./. - - c.3661A>G p.(Ile1221Val) - - - - 2 Unknown - g.211521333A>G - - - CPS1_000010 MSCV_0002854 - - ; clinvar; - - - -
./. - - c.3741C>T p.(=) - - - - 2 Unknown - g.211523379C>T - - - CPS1_000084 MSCV_0019553 - - ; clinvar; - - - -
./. - - c.3875A>T p.(Glu1292Val) - - - - 2 Unknown - g.211525309A>T - - - CPS1_000040 MSCV_0019554 - - ; clinvar; - - - -
./. - - c.3892C>T p.(His1298Tyr) - - - - 2 Unknown - g.211525326C>T - - - CPS1_000041 MSCV_0019555 - - ; clinvar; - - - -
./. - - c.3946-19del p.(=) - - - - 2 Unknown - g.211527828del - - - CPS1_000042 MSCV_0019556 - - ; clinvar; - - - -
./. - - c.3946-19_3946-18del p.(=) - - - - 2 Unknown - g.211527828_211527829del - - - CPS1_000043 MSCV_0019557 - - ; clinvar; - - - -
./. - - c.3998G>A p.(Cys1333Tyr) - - - - 2 Unknown - g.211527899G>A - - - CPS1_000044 MSCV_0019558 - - ; clinvar; - - - -
./. - - c.4086G>A p.(=) - - - - 2 Unknown - g.211532975G>A - - - CPS1_000045 MSCV_0019559 - - ; clinvar; - - - -
./. - - c.4144G>A p.(Gly1382Ser) - - - - 2 Unknown - g.211539650G>A - - - CPS1_000046 MSCV_0019560 - - ; clinvar; - - - -
+?/+? - 37/39 c.4214A>C p.? benign(0.015) missense_variant - tolerated(0.96) 2 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) - - - - 2 Unknown - g.211540486A>C - - - CPS1_000006 MSCV_0000862 - - ; clinvar; - - - -
?/? - 37/39 c.4235C>A p.? benign(0.01) missense_variant - tolerated(0.25) 2 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) 2 Unknown subst g.211540507C>A - 5.200 - CPS1_000011 MSCV_0005209 rs1047891 - ; ensembl; - - - -
./. - - c.4235C>A p.(Thr1412Asn) - - - - 2 Unknown - g.211540507C>A - - - CPS1_000011 MSCV_0002856 - - ; clinvar; - - - -
./. - - c.4270C>T p.(Pro1424Ser) - - - - 2 Unknown - g.211540542C>T - - - CPS1_000047 MSCV_0019563 - - ; clinvar; - - - -
./. - - c.4278C>G p.(=) - - - - 2 Unknown - g.211540550C>G - - - CPS1_000048 MSCV_0019564 - - ; clinvar; - - - -
./. - - c.4293-10A>G p.(=) - - - - 2 Unknown - g.211541721A>G - - - CPS1_000049 MSCV_0019565 - - ; clinvar; - - - -
./. - - c.4422+4T>A p.? - - - - 2 Unknown - g.211541864T>A - - - CPS1_000050 MSCV_0019566 - - ; clinvar; - - - -
./. - - c.*5G>A p.(=) - - - - 2 Unknown - g.211542714G>A - - - CPS1_000051 MSCV_0019567 - - ; clinvar; - - - -
./. - - c.*74T>C p.(=) - - - - 2 Unknown - g.211542783T>C - - - CPS1_000052 MSCV_0019568 - - ; clinvar; - - - -
./. - - c.*187C>T p.(=) - - - - 2 Unknown - g.211542896C>T - - - CPS1_000053 MSCV_0019569 - - ; clinvar; - - - -
./. - - c.*235A>T p.(=) - - - - 2 Unknown - g.211542944A>T - - - CPS1_000054 MSCV_0019570 - - ; clinvar; - - - -
./. - - c.*311A>G p.(=) - - - - 2 Unknown - g.211543020A>G - - - CPS1_000055 MSCV_0019571 - - ; clinvar; - - - -
./. - - c.*346T>C p.(=) - - - - 2 Unknown - g.211543055T>C - - - CPS1_000056 MSCV_0019572 - - ; clinvar; - - - -
./. - - c.*380C>G p.(=) - - - - 2 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