Transcript #00000659

Transcript name transcript variant 3
Gene name CPS1 (carbamoyl-phosphate synthase 1, mitochondrial)
Chromosome 2
Transcript - NCBI ID NM_001122634.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001116106.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

90 entries on 1 page. Showing entries 1 - 90.
Legend  

Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.-3687C>T p.(=) - - - -
./. - - c.-2968A>G p.(=) - - - -
./. - - c.-2960C>G p.(=) - - - -
./. - - c.-2039C>T p.(=) - - - -
+/+ - - c.-1971A>G p.(=) - - - -
./. - - c.-1971A>G p.(=) - - - -
./. - - c.-1960T>G p.(=) - - - -
./. - - c.-1951A>G p.(=) - - - -
./. - - c.-1951A>T p.(=) - - - -
./. - - c.-1949C>T p.(=) - - - -
./. - - c.-1913C>G p.(=) - - - -
./. - - c.-992C>T p.(=) - - - -
./. - - c.-189-5T>C p.? - - - -
./. - - c.-47G>A p.(=) - - - -
./. - - c.6+7G>A p.(=) - - - -
./. - - c.84G>A p.(=) - - - -
./. - - c.125C>T p.(Thr42Ile) - - - -
./. - - c.216A>G p.(=) - - - -
+/+ - 5/28 c.278C>T p.(Thr93Met) possibly_damaging(0.573) missense_variant - deleterious(0)
./. - - c.278C>T p.(Thr93Met) - - - -
./. - - c.559C>T p.(Arg187*) - - - -
?/? - 7/28 c.565G>T p.(Ala189Ser) benign(0.012) missense_variant - tolerated(0.17)
./. - - c.629-8A>T p.(=) - - - -
./. - - c.839+6A>T p.(=) - - - -
./. - - c.840-15G>T p.(=) - - - -
./. - - c.912C>A p.(=) - - - -
./. - - c.912C>T p.(=) - - - -
+/+ - 9/28 c.1006C>T p.(Arg336*) - stop_gained - -
./. - - c.1006C>T p.(Arg336*) - - - -
./. - - c.1023G>C p.(Met341Ile) - - - -
./. - - c.1041C>A p.(=) - - - -
./. - - c.1054C>T p.(Arg352Cys) - - - -
./. - - c.1068G>A p.(=) - - - -
./. - - c.1088G>A p.(Arg363Gln) - - - -
./. - - c.1095C>T p.(=) - - - -
?/? - 11/28 c.1270A>G p.(Lys424Glu) benign(0.281) missense_variant - deleterious(0.04)
./. - - c.1326C>G p.(=) - - - -
./. - - c.1396A>G p.(Ile466Val) - - - -
./. - - c.1477-18A>G p.(=) - - - -
./. - - c.1492G>A p.(Ala498Thr) - - - -
./. - - c.1530_1542del p.(Tyr511Serfs*11) - - - -
+/+ - 14/28 c.1592G>A p.(Gly531Asp) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.1592G>A p.(Gly531Asp) - - - -
+/+ - 14/28 c.1592G>T p.(Gly531Val) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.1677_1679del p.(Val562del) - - - -
./. - - c.1768C>T p.(=) - - - -
./. - - c.1788+11del p.(=) - - - -
./. - - c.2002G>A p.(Ala668Thr) - - - -
./. - - c.2111C>T p.(Ala704Val) - - - -
./. - - c.2128-8C>T p.(=) - - - -
./. - - c.2128-7G>A p.(=) - - - -
./. - - c.2205+7G>A p.(=) - - - -
./. - - c.2273T>C p.(Met758Thr) - - - -
?/? - 20/28 c.2290A>G p.(Ile764Val) benign(0.032) missense_variant - deleterious(0.03)
./. - - c.2290A>G p.(Ile764Val) - - - -
./. - - c.2370C>T p.(=) - - - -
./. - - c.2504A>T p.(Glu835Val) - - - -
./. - - c.2521C>T p.(His841Tyr) - - - -
./. - - c.2575-19del p.(=) - - - -
./. - - c.2575-19_2575-18del p.(=) - - - -
./. - - c.2627G>A p.(Cys876Tyr) - - - -
./. - - c.2715G>A p.(=) - - - -
./. - - c.2773G>A p.(Gly925Ser) - - - -
./. - - c.2843A>C p.(Asn948Thr) - - - -
+?/+? - 26/28 c.2843A>C p.(Asn948Thr) benign(0.026) missense_variant - tolerated(0.72)
./. - - c.2864C>A p.(Thr955Asn) - - - -
./. - 26/28 c.2864C>A p.(Thr955Asn) benign(0.017) missense_variant - tolerated(0.26)
./. - - c.2899C>T p.(Pro967Ser) - - - -
./. - - c.2907C>G p.(=) - - - -
./. - - c.2922-10A>G p.(=) - - - -
./. - - c.3051+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.(=) - - - -
./. - - c.*387C>T p.(=) - - - -
./. - - c.*438T>G p.(=) - - - -
./. - - c.*692C>G p.(=) - - - -
./. - - c.*739T>G p.(=) - - - -
./. - - c.*754T>G p.(=) - - - -
./. - - c.*777A>G p.(=) - - - -
./. - - c.*849A>G p.(=) - - - -
./. - - c.*946C>T p.(=) - - - -
./. - - c.*976C>T p.(=) - - - -
./. - - c.*1040C>T p.(=) - - - -
./. - - c.*1068G>T p.(=) - - - -
./. - - c.*1117A>G p.(=) - - - -
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