Transcript #00023836

Transcript name transcript variant 2
Gene name EYA1 (eyes absent homolog 1 (Drosophila))
Chromosome 8
Transcript - NCBI ID NM_172058.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_742055.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

51 entries on 1 page. Showing entries 1 - 51.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.58C>G benign r.(?) p.(Pro20Ala)
-?/. - c.121G>C likely benign r.(?) p.(Glu41Gln)
?/. - c.158C>T VUS r.(?) p.(Ala53Val)
+?/. - c.319G>A likely pathogenic r.(?) p.(Ala107Thr)
-?/. - c.321T>C likely benign r.(=) p.(=)
+/. - c.381C>A pathogenic r.(?) p.(Tyr127*)
?/. - c.434G>A VUS r.(?) p.(Gly145Asp)
-?/. - c.556+8T>A likely benign r.(=) p.(=)
-/. - c.556+18G>T benign r.(=) p.(=)
+/. - c.557-2A>G pathogenic r.spl? p.?
+/. - c.787del pathogenic r.(?) p.(Ser263Leufs*103)
-/. - c.813A>G benign r.(=) p.(=)
-?/. - c.840C>A likely benign r.(=) p.(=)
-?/. - c.865G>T likely benign r.(?) p.(Asp289Tyr)
+/. - c.920del pathogenic r.(?) p.(Gly307Alafs*59)
+/. - c.922C>T pathogenic r.(?) p.(Arg308*)
+/. - c.963dup pathogenic r.(?) p.(Glu322*)
+/. - c.966+5G>A pathogenic r.spl? p.?
+/. - c.980G>A pathogenic r.(?) p.(Trp327*)
-?/. - c.1050G>A likely benign r.(=) p.(=)
+/. - c.1081C>T pathogenic r.(?) p.(Arg361*)
+/. 12 c.1122del pathogenic r.(?) p.(Leu374Phefs*6)
+/. - c.1135_1136del pathogenic r.(?) p.(Leu379Argfs*4)
+/. - c.1141-2A>G pathogenic r.spl? p.?
+/. - c.1150C>T pathogenic r.(?) p.(Gln384*)
+/. - c.1200-2del pathogenic r.spl? p.?
-/. - c.1278C>T benign r.(=) p.(=)
-/. - c.1278C>T benign r.(=) p.(=)
-/. - c.1278C>T benign r.(=) p.(=)
+/. - c.1289G>A pathogenic r.(?) p.(Trp430*)
+/. - c.1319G>A pathogenic r.(?) p.(Arg440Gln)
+/. - c.1436T>A - r.(?) p.(Leu479*)
+/. - c.1459T>C pathogenic r.(?) p.(Ser487Pro)
+?/? - c.1460C>T - r.(?) p.(Ser487Leu)
+?/? - c.1460C>T - r.(?) p.(Ser487Leu)
?/. - c.1460C>T VUS r.(?) p.(Ser487Leu)
-/. - c.1476-21G>T benign r.(=) p.(=)
+/. - c.1476-2A>G pathogenic r.spl? p.?
?/. - c.1523C>T VUS r.(?) p.(Ala508Val)
?/. - c.1582A>C VUS r.(?) p.(Ser528Arg)
-/. - c.1597+18T>C benign r.(=) p.(=)
-/. - c.1597+18T>C benign r.(=) p.(=)
+/. - c.1644del pathogenic r.(?) p.(Val549Trpfs*6)
+/. - c.1656_1659del pathogenic r.(?) p.(Val553*)
-/. - c.1699-23A>G benign r.(=) p.(=)
-/. - c.1699-3C>T benign r.spl? p.?
+/. - c.1748T>G pathogenic r.(?) p.(Leu583Arg)
-/. - c.1755T>C benign r.(=) p.(=)
-/. - c.1755T>C benign r.(=) p.(=)
-/. - c.1755T>C benign r.(=) p.(=)
-/. - c.1755T>C benign r.(=) p.(=)
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