Transcript #00001871

Transcript name elaC homolog 2 (E. coli), transcript variant 1
Gene name ELAC2 (elaC ribonuclease Z 2)
Chromosome 17
Transcript - NCBI ID NM_018127.6
Transcript - Ensembl ID -
Protein - NCBI ID NP_060597.4
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

66 entries on 1 page. Showing entries 1 - 66.
Legend  

Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.50C>T p.(Ser17Leu) - - - -
./. - - c.82C>T p.(Arg28Cys) - - - -
./. - - c.95C>G p.(Pro32Arg) - - - -
./. - - c.98G>T p.(Arg33Leu) - - - -
./. - - c.145T>C p.(Ser49Pro) - - - -
./. - - c.155C>G p.(Ser52Cys) - - - -
./. - - c.155C>T p.(Ser52Phe) - - - -
./. - - c.174G>A p.(=) - - - -
./. - - c.240C>T p.(=) - - - -
./. - - c.297-2_297-1delinsT p.? - - - -
./. - - c.325T>C p.(Phe109Leu) - - - -
./. - - c.347C>T p.(Ser116Phe) - - - -
./. - - c.368-4T>A p.? - - - -
./. - - c.387G>A p.(=) - - - -
./. - - c.394G>A p.(Gly132Arg) - - - -
./. - - c.432+7C>T p.(=) - - - -
+/+ - 5/23 c.460T>C p.(Phe154Leu) probably_damaging(0.985) missense_variant - deleterious(0)
./. - - c.460T>C p.(Phe154Leu) - - - -
./. - - c.560-2A>G p.? - - - -
./. - - c.751A>T p.(Arg251*) - - - -
+/+ - 9/24 c.751A>T p.(Arg251*) - stop_gained - -
./. - - c.929A>C p.(Glu310Ala) - - - -
./. - - c.1028T>G p.(Met343Arg) - - - -
./. - - c.1186A>G p.(Ile396Val) - - - -
+/+ - 14/24 c.1267C>T p.(Leu423Phe) probably_damaging(0.991) missense_variant - tolerated(0.23)
./. - - c.1267C>T p.(Leu423Phe) - - - -
./. - - c.1305-8_1305-7insTCTC p.(=) - - - -
./. - - c.1305-6_1305-5insC p.(=) - - - -
./. - - c.1377C>T p.(=) - - - -
./. - - c.1389C>T p.(=) - - - -
./. - - c.1390A>T p.(Arg464Trp) - - - -
./. - - c.1424-3C>T p.? - - - -
./. - - c.1458T>C p.(=) - - - -
./. - - c.1479G>C p.(=) - - - -
./. - - c.1559C>T p.(Thr520Ile) - - - -
+/+ - 17/24 c.1559C>T p.(Thr520Ile) probably_damaging(0.997) missense_variant - deleterious(0)
./. - - c.1621G>A p.(Ala541Thr) - - - -
./. - - c.1645G>A p.(Ala549Thr) - - - -
./. - - c.1659G>A p.(=) - - - -
./. - - c.1669A>G p.(Ser557Gly) - - - -
./. - - c.1692C>T p.(=) - - - -
./. - - c.1698+1G>C p.? - - - -
./. - - c.1699-8_1699-7insT p.(=) - - - -
./. - - c.1780C>G p.(Gln594Glu) - - - -
./. - - c.1799A>G p.(His600Arg) - - - -
./. - - c.1865A>T p.(Glu622Val) - - - -
./. - - c.1985T>C p.(Val662Ala) - - - -
./. - - c.1993G>A p.(Gly665Arg) - - - -
./. - - c.2009del p.(Cys670Serfs*14) - - - -
./. - - c.2076T>G p.(=) - - - -
./. - - c.2130C>T p.(=) - - - -
./. - - c.2142G>T p.(=) - - - -
./. - - c.2151G>A p.(=) - - - -
./. - - c.2163G>T p.(Met721Ile) - - - -
./. - - c.2275A>G p.(Thr759Ala) - - - -
./. - - c.2325C>T p.(=) - - - -
./. - - c.2338_2349del p.(Glu780_Glu783del) - - - -
./. - - c.2342G>A p.(Arg781His) - - - -
./. - - c.2353C>T p.(Arg785Trp) - - - -
./. - - c.2372G>A p.(Arg791Gln) - - - -
./. - - c.2375C>T p.(Ala792Val) - - - -
./. - - c.2376G>A p.(=) - - - -
./. - - c.2404G>A p.(Gly802Ser) - - - -
./. - - c.2415_2416insCGGGAGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT p.(Arg785_Asp805dup) - - - -
./. - - c.2415_2416insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT p.(Asp805_Gly806insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) - - - -
./. - - c.2457G>A p.(=) - - - -
Legend