Transcript #00007280 (NM_153717.2, EVC gene)

Transcript name Ellis van Creveld syndrome
Gene name EVC (Ellis van Creveld syndrome)
Chromosome 4
Transcript - NCBI ID NM_153717.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_714928.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

248 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. - c.-3062_-3058dup r.(?) p.(=)
-?/. - c.-3043C>G r.(?) p.(=)
-?/. - c.-2989G>T r.(?) p.(=)
-?/. - c.-2989G>T r.(?) p.(=)
-?/. - c.-2989G>T r.(?) p.(=)
+/. - c.-2983C>T r.(?) p.(=)
-?/. - c.-2959A>G r.(?) p.(=)
-?/. - c.-2929A>G r.(?) p.(=)
-/. - c.-2919G>A r.(?) p.(=)
-/. - c.-2853C>T r.(?) p.(=)
+/. 9i_21_ c.(1315+1_1316-1)_*3267{0} r.? p.?
+/. 11i_21_ c.(1563+1_1564-1)_*3267{0} r.? p.?
+/. _1_11i c.-184_1563+7728{0} r.([NM_018401.1:r.-64_260]::1564_*3267) p.?
+/. _1_11i c.-184_1564-4573{0} r.([NM_018401.1:r.-64_260]::1564_*3267) p.?
+/. 1 c.2T>A r.(?) p.(Met1?)
+/. - c.15_16ins(46) r.? p.?
?/. - c.89C>T r.(?) p.(Pro30Leu)
-?/. - c.89C>T r.(?) p.(Pro30Leu)
+/. - c.101dup r.(?) p.(Ala36Argfs*37)
-?/. - c.105C>A r.(?) p.(Gly35=)
+/. 1i c.174+1G>A r.spl p.?
+/. 1i c.175-2A>G r.spl p.?
+/. - c.186_187del r.(?) p.(Gln63Lysfs*9)
+/. 2 c.203del r.(?) p.(Asn68Ilefs*48)
-/. - c.221A>C r.(?) p.(Gln74Pro)
-?/. - c.230C>T r.(?) p.(Ser77Leu)
?/. - c.255G>A r.(?) p.(=)
-?/. - c.284A>G r.(?) p.(Asp95Gly)
-/. - c.284A>G r.(?) p.(Asp95Gly)
-/. - c.284A>G r.(?) p.(Asp95Gly)
+/. 2i_ c.(300+1_301-1)_(1563+1_1564-1)del r.? p.?
-/. - c.341C>T r.(?) p.(Ala114Val)
-/. - c.341C>T r.(?) p.(Ala114Val)
-?/. - c.341C>T r.(?) p.(Ala114Val)
+/. 3 c.363C>A r.(?) p.(Tyr121*)
+/. 3 c.363C>A r.(?) p.(Tyr121*)
+/. - c.364C>T r.(?) p.(Pro122Ser)
+?/. 3 c.364C>T r.(?) p.(Pro122Ser)
+/. 3i c.384+5_384+6delinsAC r.spl p.?
-?/. - c.435G>A r.(?) p.(Gln145=)
?/. - c.439G>C r.(?) p.(Val147Leu)
-?/. - c.469C>G r.(?) p.(Pro157Ala)
-?/. - c.469C>G r.(?) p.(Pro157Ala)
-?/. - c.473C>G r.(?) p.(Ser158Cys)
-?/. - c.511G>A r.(?) p.(Asp171Asn)
?/. - c.516C>G r.(?) p.(Cys172Trp)
-?/. - c.550G>A r.(?) p.(Asp184Asn)
-?/. - c.550G>A r.(?) p.(Asp184Asn)
-?/. - c.550G>A r.(?) p.(Asp184Asn)
-?/. - c.550G>A r.(?) p.(Asp184Asn)
?/. - c.569G>T r.(?) p.(Arg190Leu)
+/. - c.617G>A r.(?) p.(Ser206Asn)
+/. - c.617G>A r.(?) p.(Ser206Asn)
+/. - c.618-2A>G r.spl p.?
+/. - c.618-1G>A r.spl? p.?
+/. - c.618-1G>T r.spl p.?
+/. - c.635del r.(?) p.(Cys212Leufs*7)
+/. 5i c.703-1G>C r.spl p.?
+/. 6 c.708dup r.(?) p.(Ile237Tyrfs*5)
+/. - c.735del r.(?) p.(Asp246Thrfs*27)
+/. - c.752dup r.(?) p.(Lys252Glufs*4)
-/. - c.769C>T r.(?) p.(Leu257=)
-/. - c.769C>T r.(?) p.(Leu257=)
+/. 6 c.770T>A r.(?) p.(Leu257Gln)
-/. - c.772T>C r.(?) p.(Tyr258His)
-/. - c.772T>C r.(?) p.(Tyr258His)
-/. - c.772T>C r.(?) p.(Tyr258His)
+/. - c.801+1G>T r.spl p.?
-/. - c.802-15C>T r.(=) p.(=)
-/. - c.802-12_802-11del r.(=) p.(=)
+/. - c.829C>T r.(?) p.(Gln277*)
?/. - c.835_837del r.(?) p.(Lys279del)
+/. 7 c.873dup r.(?) p.(Glu292*)
+/. 7 c.873dup r.(?) p.(Glu292*)
+/. 7 c.873dup r.(?) p.(Glu292*)
+/. - c.873dup r.(?) p.(Glu292Ter)
+/. - c.873dup r.(?) p.(Glu292Ter)
?/. - c.899A>C r.(?) p.(Glu300Ala)
+/. - c.904_906del r.(?) p.(Lys302del)
+/. 7 c.904_906del r.(?) p.(Lys302del)
+/. - c.904_906del r.(?) p.(Lys302del)
+/. 7 c.904_906del r.(?) p.(Lys302del)
+/. 7 c.904_906del r.(?) p.(Lys302del)
+/. 7 c.904_906del r.(?) p.(Lys302del)
?/. - c.904_906del r.(?) p.(Lys302del)
+/. 7 c.910dup r.(?) p.(Arg304Lysfs*5)
+/. 7 c.910dup r.(?) p.(Arg304Lysfs*5)
+/. - c.919T>C r.(?) p.(Ser307Pro)
+/. - c.919T>C r.(?) p.(Ser307Pro)
+/. - c.919T>C r.(?) p.(Ser307Pro)
+/. 7 c.919T>C r.(?) p.(Ser307Pro)
+/. 7 c.919T>C r.(?) p.(Ser307Pro)
+/. - c.928C>G r.(?) p.(Leu310Val)
-?/. - c.934G>A r.(?) p.(Asp312Asn)
-/. - c.934G>A r.(?) p.(Asp312Asn)
-?/. - c.934G>A r.(?) p.(Asp312Asn)
-/. - c.939+4C>T r.spl? p.?
-/. - c.939+4C>T r.spl? p.?
-?/. - c.939+9C>T r.(=) p.(=)
-/. - c.939+10A>G r.(=) p.(=)
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