Transcript #00001870

Transcript name elaC homolog 2 (E. coli), transcript variant 2
Gene name ELAC2 (elaC ribonuclease Z 2)
Chromosome 17
Transcript - NCBI ID NM_173717.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_776065.1
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.(=) - - - -
+/+ - 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.1264C>T p.(Leu422Phe) - missense_variant - -
./. - - c.1264C>T p.(Leu422Phe) - - - -
./. - - c.1302-8_1302-7insTCTC p.(=) - - - -
./. - - c.1302-6_1302-5insC p.(=) - - - -
./. - - c.1374C>T p.(=) - - - -
./. - - c.1386C>T p.(=) - - - -
./. - - c.1387A>T p.(Arg463Trp) - - - -
./. - - c.1421-3C>T p.? - - - -
./. - - c.1455T>C p.(=) - - - -
./. - - c.1476G>C p.(=) - - - -
./. - - c.1556C>T p.(Thr519Ile) - - - -
+/+ - 17/24 c.1556C>T p.(Thr519Ile) - missense_variant - -
./. - - c.1618G>A p.(Ala540Thr) - - - -
./. - - c.1642G>A p.(Ala548Thr) - - - -
./. - - c.1656G>A p.(=) - - - -
./. - - c.1666A>G p.(Ser556Gly) - - - -
./. - - c.1689C>T p.(=) - - - -
./. - - c.1695+1G>C p.? - - - -
./. - - c.1696-8_1696-7insT p.(=) - - - -
./. - - c.1777C>G p.(Gln593Glu) - - - -
./. - - c.1796A>G p.(His599Arg) - - - -
./. - - c.1862A>T p.(Glu621Val) - - - -
./. - - c.1982T>C p.(Val661Ala) - - - -
./. - - c.1990G>A p.(Gly664Arg) - - - -
./. - - c.2006del p.(Cys669Serfs*14) - - - -
./. - - c.2073T>G p.(=) - - - -
./. - - c.2127C>T p.(=) - - - -
./. - - c.2139G>T p.(=) - - - -
./. - - c.2148G>A p.(=) - - - -
./. - - c.2160G>T p.(Met720Ile) - - - -
./. - - c.2272A>G p.(Thr758Ala) - - - -
./. - - c.2322C>T p.(=) - - - -
./. - - c.2335_2346del p.(Glu779_Glu782del) - - - -
./. - - c.2339G>A p.(Arg780His) - - - -
./. - - c.2350C>T p.(Arg784Trp) - - - -
./. - - c.2369G>A p.(Arg790Gln) - - - -
./. - - c.2372C>T p.(Ala791Val) - - - -
./. - - c.2373G>A p.(=) - - - -
./. - - c.2401G>A p.(Gly801Ser) - - - -
./. - - c.2412_2413insCGGGAGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT p.(Arg784_Asp804dup) - - - -
./. - - c.2412_2413insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT p.(Asp804_Gly805insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) - - - -
./. - - c.2454G>A p.(=) - - - -
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