Transcript #00000126

Transcript name biotinidase
Gene name BTD (biotinidase)
Chromosome 3
Transcript - NCBI ID NM_000060.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000051.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

347 entries on 4 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.-30066del benign r.(?) p.(=)
-/. - c.-315A>G benign r.(?) p.(=)
-/- 1_4 c.= - r.(?) p.(=)
-/- 1_4 c.= - r.(?) p.(=)
-/- 1_4 c.= - r.(?) p.(=)
-/- 1_4 c.= - r.(?) p.(=)
-/- 1_4 c.= - r.(?) p.(=)
-/- 1_4 c.= - r.(?) p.(=)
-/- 1_4 c.= - r.(?) p.(=)
-/- 1_4 c.= - r.(?) p.(=)
-/- 1_4 c.= - r.(?) p.(=)
-/- 1_4 c.= - r.(?) p.(=)
-/- 1_4 c.= - r.(?) p.(=)
-/- 1_4 c.= - r.(?) p.(=)
-/- 1_4 c.= - r.(?) p.(=)
-/- 1_4 c.= - r.(?) p.(=)
-/- 1_4 c.= - r.(?) p.(=)
-/- 1_4 c.= - r.(?) p.(=)
-/- 1_4 c.= - r.(?) p.(=)
+/. 1_4 c.? - r.(?) p.?
+/. 1_4 c.? - r.(?) p.?
+/. 1_4 c.? - r.(?) p.?
+/. 1_4 c.? - r.(?) p.?
+/. - c.44+1823A>C pathogenic r.(=) p.(=)
+/+ 2 c.98_104delinsTCC - r.(?) p.(Cys33Phefs*36)
?/? 2 c.98_104delinsTCC - r.(?) p.(Cys33Phefs*36)
+/? 2 c.98_104delinsTCC - r.(?) p.(Cys33Phefs*36)
+/. - c.98_104delinsTCC pathogenic r.(?) p.(Cys33Phefs*36)
+/+ 2 c.100G>A - r.(?) p.(Gly34Ser)
+/. - c.100G>A pathogenic r.(?) p.(Gly34Ser)
?/? 2 c.133G>A - r.(?) p.(Gly45Arg)
?/? 2 c.133G>A - r.(?) p.(Gly45Arg)
+/. 2 c.133G>A - r.(?) p.(Gly45Arg)
?/. - c.133G>A - r.(?) p.(Gly45Arg)
?/. - c.133G>A - r.(?) p.(Gly45Arg)
?/. - c.133G>A VUS r.(?) p.(Gly45Arg)
-/. - c.133G>A benign r.(?) p.(Gly45Arg)
-/. - c.133G>A benign r.(?) p.(Gly45Arg)
-?/. - c.133G>A likely benign r.(?) p.(Gly45Arg)
+/. 2 c.136G>T - r.(?) p.(Glu46*)
+/. 2 c.159C>A - r.(?) p.(His53Gln)
+/. 2 c.160G>T - r.(?) p.(Glu54*)
+/. 2 c.171T>G - r.(?) p.(Tyr57*)
+/. 2 c.184G>A - r.(?) p.(Val62Met)
+/. - c.184G>A pathogenic r.(?) p.(Val62Met)
+/. 2 c.184G>T - r.(?) p.(Val62Leu)
+/. 2 c.190G>A - r.(?) p.(Glu64Lys)
+/. 2 c.212T>C - r.(?) p.(Leu71Pro)
+/. 2 c.235C>T - r.(?) p.(Arg79Cys)
+/. - c.235C>T pathogenic r.(?) p.(Arg79Cys)
+/. 2 c.236G>A - r.(?) p.(Arg79His)
?/. - c.236G>A VUS r.(?) p.(Arg79His)
+/. 2 c.245C>A - r.(?) p.(Ala82Asp)
+/. 2 c.247_255del - r.(?) p.(Leu83_Leu85del)
?/? 2 c.261C>T - r.(?) p.(=)
-?/. - c.261C>T likely benign r.(?) p.(=)
-?/. - c.262C>G likely benign r.(?) p.(Gln88Glu)
+/. 2 c.262C>T - r.(?) p.(Gln88*)
+/. 2 c.278A>G - r.(?) p.(Tyr93Cys)
+/. 2 c.283C>T - r.(?) p.(Gln95*)
+/. 2 c.289G>A - r.(?) p.(Val97Met)
+/. 2 c.298G>A - r.(?) p.(Ala100Thr)
+/. 3 c.310G>T - r.spl? p.(Asp104Tyr)
+/. 3 c.326T>G - r.(?) p.(Val109Gly)
+/. 3 c.334G>A - r.(?) p.(Glu112Lys)
+/. 3 c.334G>C - r.(?) p.(Glu112Gln)
+/. 3 c.341G>T - r.(?) p.(Gly114Val)
+/. 3 c.364A>G - r.(?) p.(Arg122Gly)
+/+ 3 c.364A>G - r.(?) p.(Arg122Gly)
+/. - c.364A>G pathogenic r.(?) p.(Arg122Gly)
+/. 3 c.382T>G - r.(?) p.(Phe128Val)
+/. 3 c.393delC - r.(?) p.(Phe131Leufs*28)
+/. - c.424C>A pathogenic r.(?) p.(Pro142Thr)
+/. 3 c.445T>C - r.(?) p.(Phe149Leu)
?/. - c.454A>C VUS r.(?) p.(Thr152Pro)
+/. 3 c.454A>C - r.(?) p.(Thr152Pro)
?/. - c.458A>G VUS r.(?) p.(Glu153Gly)
?/? 3i c.459+4A>G - r.spl? p.?
?/. - c.459+4A>G VUS r.spl? p.?
+/. 4 c.466C>T - r.(?) p.(Gln156*)
+/. 4 c.469C>T - r.(?) p.(Arg157Cys)
+/. 4 c.470G>A - r.(?) p.(Arg157His)
+/+ 4 c.470G>A - r.(?) p.(Arg157His)
+/+ 4 c.470G>A - r.(?) p.(Arg157His)
+/+ 4 c.470G>A - r.(?) p.(Arg157His)
+/. - c.470G>A pathogenic r.(?) p.(Arg157His)
?/. - c.479G>C VUS r.(?) p.(Cys160Ser)
+/. 4 c.485C>T - r.(?) p.(Ala162Val)
+/. 4 c.490_491delAG - r.(?) p.(Arg164Glyfs*17)
?/? 4 c.511G>A - r.(?) p.(Ala171Thr)
+/. 4 c.511G>A - r.(?) p.(Ala171Thr)
?/. 4 c.511G>A - r.(?) p.(Ala171Thr)
?/. 4 c.511G>A - r.(?) p.(Ala171Thr)
?/. 4 c.511G>A - r.(?) p.(Ala171Thr)
?/. 4 c.511G>A - r.(?) p.(Ala171Thr)
?/. 4 c.511G>A - r.(?) p.(Ala171Thr)
?/. 4 c.511G>A - r.(?) p.(Ala171Thr)
?/. 4 c.511G>A - r.(?) p.(Ala171Thr)
?/. 4 c.511G>A - r.(?) p.(Ala171Thr)
?/. 4 c.511G>A - r.(?) p.(Ala171Thr)
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