Transcript #00001869

Transcript name elaC homolog 2 (E. coli), transcript variant 3
Gene name ELAC2 (elaC ribonuclease Z 2)
Chromosome 17
Transcript - NCBI ID NM_001165962.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001159434.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

66 entries on 1 page. Showing entries 1 - 66.
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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.(=) - - - -
./. - - c.460T>C p.(Phe154Leu) - - - -
+/+ - 5/23 c.460T>C p.(Phe154Leu) probably_damaging(0.985) missense_variant - deleterious(0)
./. - - c.560-1113A>G p.(=) - - - -
./. - - c.631A>T p.(Arg211*) - - - -
+/+ - 8/23 c.631A>T p.(Arg211*) - stop_gained - -
./. - - c.809A>C p.(Glu270Ala) - - - -
./. - - c.908T>G p.(Met303Arg) - - - -
./. - - c.1066A>G p.(Ile356Val) - - - -
+/+ - 13/23 c.1147C>T p.(Leu383Phe) benign(0.41) missense_variant - tolerated(0.22)
./. - - c.1147C>T p.(Leu383Phe) - - - -
./. - - c.1185-8_1185-7insTCTC p.(=) - - - -
./. - - c.1185-6_1185-5insC p.(=) - - - -
./. - - c.1257C>T p.(=) - - - -
./. - - c.1269C>T p.(=) - - - -
./. - - c.1270A>T p.(Arg424Trp) - - - -
./. - - c.1304-3C>T p.? - - - -
./. - - c.1338T>C p.(=) - - - -
./. - - c.1359G>C p.(=) - - - -
./. - - c.1439C>T p.(Thr480Ile) - - - -
+/+ - 16/23 c.1439C>T p.(Thr480Ile) probably_damaging(0.983) missense_variant - deleterious(0)
./. - - c.1501G>A p.(Ala501Thr) - - - -
./. - - c.1525G>A p.(Ala509Thr) - - - -
./. - - c.1539G>A p.(=) - - - -
./. - - c.1549A>G p.(Ser517Gly) - - - -
./. - - c.1572C>T p.(=) - - - -
./. - - c.1578+1G>C p.? - - - -
./. - - c.1579-8_1579-7insT p.(=) - - - -
./. - - c.1660C>G p.(Gln554Glu) - - - -
./. - - c.1679A>G p.(His560Arg) - - - -
./. - - c.1745A>T p.(Glu582Val) - - - -
./. - - c.1865T>C p.(Val622Ala) - - - -
./. - - c.1873G>A p.(Gly625Arg) - - - -
./. - - c.1889del p.(Cys630Serfs*14) - - - -
./. - - c.1956T>G p.(=) - - - -
./. - - c.2010C>T p.(=) - - - -
./. - - c.2022G>T p.(=) - - - -
./. - - c.2031G>A p.(=) - - - -
./. - - c.2043G>T p.(Met681Ile) - - - -
./. - - c.2155A>G p.(Thr719Ala) - - - -
./. - - c.2205C>T p.(=) - - - -
./. - - c.2218_2229del p.(Glu740_Glu743del) - - - -
./. - - c.2222G>A p.(Arg741His) - - - -
./. - - c.2233C>T p.(Arg745Trp) - - - -
./. - - c.2252G>A p.(Arg751Gln) - - - -
./. - - c.2255C>T p.(Ala752Val) - - - -
./. - - c.2256G>A p.(=) - - - -
./. - - c.2284G>A p.(Gly762Ser) - - - -
./. - - c.2295_2296insCGGGAGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT p.(Arg745_Asp765dup) - - - -
./. - - c.2295_2296insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT p.(Asp765_Gly766insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) - - - -
./. - - c.2337G>A p.(=) - - - -
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