Transcript #00015884

Transcript name transcript variant 1
Gene name PDE6B (phosphodiesterase 6B, cGMP-specific, rod, beta)
Chromosome 4
Transcript - NCBI ID NM_000283.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000274.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

191 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
./. - c.-547864_*2711741del - r.0? p.0?
+?/. 1 c.3G>T - r.(?) p.(M1?)
-?/. - c.23C>T likely benign r.(?) p.(Ala8Val)
-/. - c.26G>A benign r.(?) p.(Arg9Gln)
-/. - c.101C>T benign r.(?) p.(Ala34Val)
+/. - c.120_121insGAGGA pathogenic r.(?) p.(Pro41Glufs*111)
+/. - c.122C>G pathogenic r.(?) p.(Pro41Arg)
+/. - c.125_126insTGCGA pathogenic r.(?) p.(Asp43Alafs*109)
-/. - c.132C>G benign r.(?) p.(Cys44Trp)
-/. - c.133G>A benign r.(?) p.(Asp45Asn)
-/. - c.145G>T benign r.(?) p.(Asp49Tyr)
-/. - c.145G>T benign r.(?) p.(Asp49Tyr)
?/. - c.220C>T VUS r.(?) p.(Arg74Cys)
?/. - c.221G>T VUS r.(?) p.(Arg74Leu)
?/. - c.245G>A VUS r.(?) p.(Arg82His)
?/. - c.245G>A VUS r.(?) p.(Arg82His)
-/. - c.270C>T benign r.(?) p.(=)
-/. - c.270C>T benign r.(?) p.(=)
?/. - c.293G>C VUS r.(?) p.(Arg98Pro)
?/. - c.298C>T VUS r.(?) p.(Arg100Cys)
+?/. - c.299G>A likely pathogenic r.(?) p.(Arg100His)
+/. 1 c.299G>A - r.(?) p.(Arg100His)
?/. - c.307G>A VUS r.(?) p.(Val103Met)
?/. - c.362A>G VUS r.(?) p.(Asp121Gly)
?/. - c.379G>A VUS r.(?) p.(Asp127Asn)
+/. - c.427del pathogenic r.(?) p.(Ala143Leufs*7)
+/. 1 c.428C>A - r.(?) p.(Ala143Asp)
?/. - c.454G>C VUS r.(?) p.(Glu152Gln)
?/. - c.480C>G VUS r.(?) p.(Phe160Leu)
?/. - c.485C>T VUS r.(?) p.(Ser162Leu)
-/. - c.496G>A benign r.(?) p.(Glu166Lys)
-?/. - c.496G>A likely benign r.(?) p.(Glu166Lys)
-/. 2 c.496G>A - r.(?) p.(Glu166Lys)
?/. - c.556G>A VUS r.(?) p.(Val186Ile)
-?/. - c.582C>T likely benign r.(?) p.(=)
+/. - c.583A>T pathogenic r.(?) p.(Lys195*)
?/. - c.592G>A VUS r.(?) p.(Gly198Ser)
-?/. - c.615C>T likely benign r.(?) p.(=)
-/. - c.615C>T benign r.(?) p.(=)
?/. - c.650C>G VUS r.(?) p.(Thr217Arg)
-?/. - c.655T>C likely benign r.(?) p.(Tyr219His)
-/. 3 c.655T>C - r.(?) p.(Tyr219His)
-/. 3 c.655T>C - r.(?) p.(Tyr219His)
-/. 3 c.655T>C - r.(?) p.(Tyr219His)
-/. 3 c.655T>C - r.(?) p.(Tyr219His)
-?/. - c.711+10C>T likely benign r.(=) p.(=)
+/. 4 c.772C>A pathogenic (dominant) r.(?) p.(His258Asn)
?/. - c.785A>G VUS r.(?) p.(Tyr262Cys)
+/. - c.786C>G pathogenic r.(?) p.(Tyr262*)
?/. - c.787A>G VUS r.(?) p.(Thr263Ala)
?/. - c.794G>A VUS r.(?) p.(Arg265Gln)
?/. - c.794G>A VUS r.(?) p.(Arg265Gln)
?/. - c.794G>A VUS r.(?) p.(Arg265Gln)
+?/. 4 c.801C>A - r.(?) p.(Tyr267*)
-?/. - c.804C>T likely benign r.(?) p.(=)
+/. - c.810C>A pathogenic r.(?) p.(Cys270*)
+/. - c.811G>A pathogenic r.(?) p.(Glu271Lys)
?/. - c.815G>A VUS r.(?) p.(Arg272Gln)
+/. - c.837del pathogenic r.(?) p.(Asp279Glufs*2)
-/. - c.852+11C>T benign r.(=) p.(=)
-?/. - c.852+12G>A likely benign r.(=) p.(=)
-/. - c.873T>C benign r.(?) p.(=)
+/. - c.892C>T pathogenic r.(?) p.(Gln298*)
+/. - c.892C>T pathogenic r.(?) p.(Gln298*)
+/. 5 c.892C>T - r.(?) p.(Gln298*)
+/. 5 c.892C>T - r.(?) p.(Gln298*)
-?/. - c.896C>T likely benign r.(?) p.(Pro299Leu)
+?/. - c.927+1G>C likely pathogenic r.spl? p.?
+/. 5i_6 c.928-9_940dup pathogenic (dominant) r.spl p.(Tyr314Cysfs*50)
+?/. 5i c.928-9_940dup ACMG: 5 r.spl? p.?
-/. - c.958G>A benign r.(?) p.(Val320Ile)
?/. - c.967G>A VUS r.(?) p.(Gly323Ser)
-?/. - c.993-17C>T likely benign r.(=) p.(=)
-/. - c.1041C>T benign r.(?) p.(=)
+/. - c.1041dup pathogenic r.(?) p.(Val348Argfs*9)
+/. - c.1041_1042dup pathogenic r.(?) p.(Val348Alafs*12)
+/. - c.1041_1042dup pathogenic r.(?) p.(Val348Alafs*12)
+/. 7 c.1043_1044insCG - r.(?) p.(Ala349Glyfs*11)
-?/. - c.1059+9C>G likely benign r.(=) p.(=)
?/. 6i c.1060-13G>A - r.(spl?) p.(?)
?/. 6i c.1060-13G>A - r.(spl?) p.(?)
-/. - c.1060-13G>A benign r.(=) p.(=)
?/. - c.1066A>G VUS r.(?) p.(Asn356Asp)
-?/. - c.1083C>T likely benign r.(?) p.(=)
+?/. - c.1107+3A>G likely pathogenic r.spl? p.?
+?/. - c.1107+3A>G likely pathogenic r.spl? p.?
+?/. 8i c.1107+3A>G - r.(spl?) p.(?)
+/. 8i c.1107+3A>G - r.(spl?) p.(?)
+/. 8i c.1107+3A>G - r.(spl?) p.(?)
?/. - c.1108-3C>A VUS r.spl? p.?
+/. 9 c.1160C>T - r.(?) p.(Pro387Leu)
+/. 9 c.1160C>T - r.(?) p.(Pro387Leu)
+?/. 9 c.1189G>A - r.(?) p.(Gly397Arg)
?/. - c.1195G>A VUS r.(?) p.(Ala399Thr)
+/. - c.1207_1208del pathogenic r.(?) p.(Asn403Glnfs*8)
?/. - c.1210A>G VUS r.(?) p.(Arg404Gly)
-?/. - c.1218C>T likely benign r.(?) p.(=)
+/. 9 c.1237C>T - r.(?) p.(Gln413*)
?/. - c.1242C>G VUS r.(?) p.(Asp414Glu)
?/. - c.1253T>C VUS r.(?) p.(Met418Thr)
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