Transcript #00000658

Transcript name transcript variant 2
Gene name CPS1 (carbamoyl-phosphate synthase 1, mitochondrial)
Chromosome 2
Transcript - NCBI ID NM_001875.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_001866.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

110 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.-128G>A p.(=) - - - -
./. - - c.-76A>G p.(=) - - - -
./. - - c.-29T>G p.(=) - - - -
./. - - c.-6_-5insTCT p.(=) - - - -
./. - - c.5C>T p.(Thr2Met) - - - -
+/+ - 4/5 c.130C>T p.(Gln44*) - stop_gained - -
./. - - c.130C>T p.(Gln44*) - - - -
./. - - c.186C>T p.(=) - - - -
./. - - c.195C>T p.(=) - - - -
./. - - c.208_209insAAGTGGTT p.(Phe73Lysfs*80) - - - -
./. - - c.236+5G>A p.? - - - -
./. - - c.295C>A p.(Pro99Thr) - - - -
./. - - c.302_303insTGGGAA p.(Asn103_Gly104dup) - - - -
./. - - c.449G>A p.(Gly150Glu) - - - -
./. - - c.486T>C p.(=) - - - -
./. - - c.487G>T p.(Gly163*) - - - -
./. - - c.528+9A>G p.(=) - - - -
./. - - c.529-4A>T p.? - - - -
./. - - c.637G>A p.(Gly213Ser) - - - -
./. - - c.697C>T p.(Arg233Cys) - - - -
./. - - c.783C>T p.(=) - - - -
./. - - c.937A>G p.(Met313Val) - - - -
./. - - c.945C>G p.(Asn315Lys) - - - -
./. - - c.948-6C>T p.(=) - - - -
./. - - c.1010A>G p.(His337Arg) - - - -
+/+ - 10/38 c.1010A>G p.(His337Arg) probably_damaging(0.999) missense_variant - deleterious(0)
./. - - c.1021T>G p.(Leu341Val) - - - -
./. - - c.1030A>G p.(Thr344Ala) - - - -
./. - - c.1030A>T p.(Thr344Ser) - - - -
./. - - c.1032C>T p.(=) - - - -
./. - - c.1068C>G p.(=) - - - -
./. - - c.1087-7C>T p.(=) - - - -
./. - - c.1165-5T>C p.? - - - -
./. - - c.1307G>A p.(Gly436Asp) - - - -
./. - - c.1359+7G>A p.(=) - - - -
./. - - c.1437G>A p.(=) - - - -
./. - - c.1478C>T p.(Thr493Ile) - - - -
./. - - c.1569A>G p.(=) - - - -
+/+ - 15/38 c.1631C>T p.(Thr544Met) possibly_damaging(0.573) missense_variant - deleterious(0)
./. - - c.1631C>T p.(Thr544Met) - - - -
./. - - c.1912C>T p.(Arg638*) - - - -
?/? - 17/38 c.1918G>T p.(Ala640Ser) benign(0.012) missense_variant - tolerated(0.14)
./. - - c.1982-8A>T p.(=) - - - -
./. - - c.2192+6A>T p.(=) - - - -
./. - - c.2193-15G>T p.(=) - - - -
./. - - c.2265C>A p.(=) - - - -
./. - - c.2265C>T p.(=) - - - -
./. - - c.2359C>T p.(Arg787*) - - - -
+/+ - 19/38 c.2359C>T p.(Arg787*) - stop_gained - -
./. - - c.2376G>C p.(Met792Ile) - - - -
./. - - c.2394C>A p.(=) - - - -
./. - - c.2407C>T p.(Arg803Cys) - - - -
./. - - c.2421G>A p.(=) - - - -
./. - - c.2441G>A p.(Arg814Gln) - - - -
./. - - c.2448C>T p.(=) - - - -
?/? - 21/38 c.2623A>G p.(Lys875Glu) benign(0.281) missense_variant - deleterious(0.01)
./. - - c.2679C>G p.(=) - - - -
./. - - c.2749A>G p.(Ile917Val) - - - -
./. - - c.2830-18A>G p.(=) - - - -
./. - - c.2845G>A p.(Ala949Thr) - - - -
./. - - c.2883_2895del p.(Tyr962Serfs*11) - - - -
+/+ - 24/38 c.2945G>A p.(Gly982Asp) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.2945G>A p.(Gly982Asp) - - - -
+/+ - 24/38 c.2945G>T p.(Gly982Val) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.3030_3032del p.(Val1013del) - - - -
./. - - c.3121C>T p.(=) - - - -
./. - - c.3141+11del p.(=) - - - -
./. - - c.3355G>A p.(Ala1119Thr) - - - -
./. - - c.3464C>T p.(Ala1155Val) - - - -
./. - - c.3481-8C>T p.(=) - - - -
./. - - c.3481-7G>A p.(=) - - - -
./. - - c.3558+7G>A p.(=) - - - -
./. - - c.3626T>C p.(Met1209Thr) - - - -
?/? - 30/38 c.3643A>G p.(Ile1215Val) benign(0.032) missense_variant - deleterious(0.02)
./. - - c.3643A>G p.(Ile1215Val) - - - -
./. - - c.3723C>T p.(=) - - - -
./. - - c.3857A>T p.(Glu1286Val) - - - -
./. - - c.3874C>T p.(His1292Tyr) - - - -
./. - - c.3928-19del p.(=) - - - -
./. - - c.3928-19_3928-18del p.(=) - - - -
./. - - c.3980G>A p.(Cys1327Tyr) - - - -
./. - - c.4068G>A p.(=) - - - -
./. - - c.4126G>A p.(Gly1376Ser) - - - -
+?/+? - 36/38 c.4196A>C p.(Asn1399Thr) benign(0.026) missense_variant - tolerated(0.98)
./. - - c.4196A>C p.(Asn1399Thr) - - - -
./. - - c.4217C>A p.(Thr1406Asn) - - - -
./. - 36/38 c.4217C>A p.(Thr1406Asn) benign(0.017) missense_variant - tolerated(0.25)
./. - - c.4252C>T p.(Pro1418Ser) - - - -
./. - - c.4260C>G p.(=) - - - -
./. - - c.4275-10A>G p.(=) - - - -
./. - - c.4404+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.(=) - - - -
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