Transcript #00000657

Transcript name transcript variant 1
Gene name CPS1 (carbamoyl-phosphate synthase 1, mitochondrial)
Chromosome 2
Transcript - NCBI ID NM_001122633.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001116105.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

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

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.3+12G>A p.(=) - - - -
./. - - c.4-113G>A p.(=) - - - -
./. - - c.4-61A>G p.(=) - - - -
./. - - c.4-14T>G p.(=) - - - -
./. - - c.13_14insTCT p.(Ile5_Lys6insPhe) - - - -
./. - - c.23C>T p.(Thr8Met) - - - -
./. - - c.148C>T p.(Gln50*) - - - -
+/+ - 3/5 c.148C>T p.? - stop_gained - -
./. - - c.204C>T p.(=) - - - -
./. - - c.213C>T p.(=) - - - -
./. - - c.226_227insAAGTGGTT p.(Phe79Lysfs*80) - - - -
./. - - c.254+5G>A p.? - - - -
./. - - c.313C>A p.(Pro105Thr) - - - -
./. - - c.320_321insTGGGAA p.(Asn109_Gly110dup) - - - -
./. - - c.467G>A p.(Gly156Glu) - - - -
./. - - c.504T>C p.(=) - - - -
./. - - c.505G>T p.(Gly169*) - - - -
./. - - c.546+9A>G p.(=) - - - -
./. - - c.547-4A>T p.? - - - -
./. - - c.655G>A p.(Gly219Ser) - - - -
./. - - c.715C>T p.(Arg239Cys) - - - -
./. - - c.801C>T p.(=) - - - -
./. - - c.955A>G p.(Met319Val) - - - -
./. - - c.963C>G p.(Asn321Lys) - - - -
./. - - c.966-6C>T p.(=) - - - -
+/+ - 11/39 c.1028A>G p.? probably_damaging(0.999) missense_variant - deleterious(0)
./. - - c.1028A>G p.(His343Arg) - - - -
./. - - c.1039T>G p.(Leu347Val) - - - -
./. - - c.1048A>G p.(Thr350Ala) - - - -
./. - - c.1048A>T p.(Thr350Ser) - - - -
./. - - c.1050C>T p.(=) - - - -
./. - - c.1086C>G p.(=) - - - -
./. - - c.1105-7C>T p.(=) - - - -
./. - - c.1183-5T>C p.? - - - -
./. - - c.1325G>A p.(Gly442Asp) - - - -
./. - - c.1377+7G>A p.(=) - - - -
./. - - c.1455G>A p.(=) - - - -
./. - - c.1496C>T p.(Thr499Ile) - - - -
./. - - c.1587A>G p.(=) - - - -
./. - - c.1649C>T p.(Thr550Met) - - - -
+/+ - 16/39 c.1649C>T p.? possibly_damaging(0.755) missense_variant - deleterious(0)
./. - - c.1930C>T p.(Arg644*) - - - -
?/? - 18/39 c.1936G>T p.? benign(0.007) missense_variant - tolerated(0.14)
./. - - c.2000-8A>T p.(=) - - - -
./. - - c.2210+6A>T p.(=) - - - -
./. - - c.2211-15G>T p.(=) - - - -
./. - - c.2283C>A p.(=) - - - -
./. - - c.2283C>T p.(=) - - - -
+/+ - 20/39 c.2377C>T p.? - stop_gained - -
./. - - c.2377C>T p.(Arg793*) - - - -
./. - - c.2394G>C p.(Met798Ile) - - - -
./. - - c.2412C>A p.(=) - - - -
./. - - c.2425C>T p.(Arg809Cys) - - - -
./. - - c.2439G>A p.(=) - - - -
./. - - c.2459G>A p.(Arg820Gln) - - - -
./. - - c.2466C>T p.(=) - - - -
?/? - 22/39 c.2641A>G p.? benign(0.189) missense_variant - deleterious(0.01)
./. - - c.2697C>G p.(=) - - - -
./. - - c.2767A>G p.(Ile923Val) - - - -
./. - - c.2848-18A>G p.(=) - - - -
./. - - c.2863G>A p.(Ala955Thr) - - - -
./. - - c.2901_2913del p.(Tyr968Serfs*11) - - - -
./. - - c.2963G>A p.(Gly988Asp) - - - -
+/+ - 25/39 c.2963G>A p.? probably_damaging(1) missense_variant - deleterious(0)
+/+ - 25/39 c.2963G>T p.? probably_damaging(1) missense_variant - deleterious(0)
./. - - c.3048_3050del p.(Val1019del) - - - -
./. - - c.3139C>T p.(=) - - - -
./. - - c.3159+11del p.(=) - - - -
./. - - c.3373G>A p.(Ala1125Thr) - - - -
./. - - c.3482C>T p.(Ala1161Val) - - - -
./. - - c.3499-8C>T p.(=) - - - -
./. - - c.3499-7G>A p.(=) - - - -
./. - - c.3576+7G>A p.(=) - - - -
./. - - c.3644T>C p.(Met1215Thr) - - - -
?/? - 31/39 c.3661A>G p.? benign(0.036) missense_variant - deleterious(0.02)
./. - - c.3661A>G p.(Ile1221Val) - - - -
./. - - c.3741C>T p.(=) - - - -
./. - - c.3875A>T p.(Glu1292Val) - - - -
./. - - c.3892C>T p.(His1298Tyr) - - - -
./. - - c.3946-19del p.(=) - - - -
./. - - c.3946-19_3946-18del p.(=) - - - -
./. - - c.3998G>A p.(Cys1333Tyr) - - - -
./. - - c.4086G>A p.(=) - - - -
./. - - c.4144G>A p.(Gly1382Ser) - - - -
+?/+? - 37/39 c.4214A>C p.? benign(0.015) missense_variant - tolerated(0.96)
./. - - c.4214A>C p.(Asn1405Thr) - - - -
?/? - 37/39 c.4235C>A p.? benign(0.01) missense_variant - tolerated(0.25)
./. - - c.4235C>A p.(Thr1412Asn) - - - -
./. - 37/39 c.4235C>A p.(Thr1412Asn) benign(0.01) missense_variant - tolerated(0.25)
./. - - c.4270C>T p.(Pro1424Ser) - - - -
./. - - c.4278C>G p.(=) - - - -
./. - - c.4293-10A>G p.(=) - - - -
./. - - c.4422+4T>A p.? - - - -
./. - - c.*5G>A p.(=) - - - -
./. - - c.*74T>C p.(=) - - - -
./. - - c.*187C>T p.(=) - - - -
./. - - c.*235A>T p.(=) - - - -
./. - - c.*311A>G p.(=) - - - -
./. - - c.*346T>C p.(=) - - - -
./. - - c.*380C>G p.(=) - - - -
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