All transcript variants in gene APRT

Information The variants shown are described using the NM_000485.2 transcript reference sequence.

84 entries on 1 page. Showing entries 1 - 84.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. - c.-2622G>A likely pathogenic r.(?) p.(=) g.88880929C>T - GALNS(NM_001323544.1):c.1505G>A (p.W502*) - APRT_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.1A>G pathogenic (recessive) r.(?) p.0? g.88878307T>C g.88811899T>C - - APRT_000036 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.1A>G pathogenic (recessive) r.(?) p.0? g.88878307T>C g.88811899T>C - - APRT_000036 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.3G>A pathogenic (recessive) r.(?) p.0? g.88878305C>T g.88811897C>T - - APRT_000035 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
?/. - c.80+3G>A VUS r.spl? p.? g.88878225C>T - APRT(NM_000485.2):c.80+3G>A - APRT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.119G>C pathogenic (recessive) r.(?) p.(Arg40Pro) g.88878026C>G g.88811618C>G 282G>C - APRT_000034 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.188G>A pathogenic (recessive) r.(?) p.(Gly63Asp) g.88876964C>T g.88810556C>T 1344G>A - APRT_000033 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.194A>T pathogenic (recessive) r.(?) p.(Asp65Val) g.88876958T>A g.88810550T>A 1350A>T - APRT_000032 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.199C>T pathogenic (recessive) r.(?) p.(Arg67*) g.88876953G>A g.88810545G>A 1355C>T - APRT_000031 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.286_287del pathogenic (recessive) r.(?) p.(Thr96Serfs*13) g.88876865_88876866del g.88810457_88810458del 1442_1443delAC - APRT_000030 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.289_290del pathogenic r.(?) p.(Leu97Valfs*12) g.88876862_88876863del g.88810454_88810455del - - APRT_000019 - - - - Germline/De novo (untested) ? - - 0 - Daniela Francesca Giachino
+/. - c.289_290del pathogenic (recessive) r.(?) p.(Leu97Valfs*12) g.88876862_88876863del g.88810454_88810455del 1443_1444delCT - APRT_000019 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.289_290del pathogenic (recessive) r.(?) p.(Leu97Valfs*12) g.88876862_88876863del g.88810454_88810455del 1443_1444delCT - APRT_000019 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.289_290del pathogenic (recessive) r.(?) p.(Leu97Valfs*12) g.88876862_88876863del g.88810454_88810455del 1443_1444delCT - APRT_000019 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.311A>G pathogenic (recessive) r.(?) p.(Glu104Gly) g.88876841T>C g.88810433T>C 1467A>G - APRT_000029 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.367del likely pathogenic r.(?) p.(Val123Trpfs*14) g.88876511del g.88810103del - - APRT_000018 - - - - Germline/De novo (untested) ? - - 0 - Daniela Francesca Giachino
+/. - c.371T>G pathogenic (recessive) r.(?) p.(Val124Gly) g.88876507A>C g.88810099A>C 1801T>G - APRT_000028 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3) g.88876476dup g.88810068dup IVS4+2insT - APRT_000027 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3) g.88876476dup g.88810068dup IVS4+2insT - APRT_000027 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3) g.88876476dup g.88810068dup IVS4+2insT - APRT_000027 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3) g.88876476dup g.88810068dup IVS4+2insT - APRT_000027 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3) g.88876476dup g.88810068dup IVS4+2insT - APRT_000027 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3) g.88876476dup g.88810068dup IVS4+2insT - APRT_000027 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3) g.88876476dup g.88810068dup IVS4+2insT - APRT_000027 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3) g.88876476dup g.88810068dup IVS4+2insT - APRT_000027 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3) g.88876476dup g.88810068dup IVS4+2insT - APRT_000027 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3) g.88876476dup g.88810068dup IVS4+2insT - APRT_000027 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3) g.88876476dup g.88810068dup IVS4+2insT - APRT_000027 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3) g.88876476dup g.88810068dup IVS4+2insT - APRT_000027 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3) g.88876476dup g.88810068dup IVS4+2insT - APRT_000027 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3) g.88876476dup g.88810068dup IVS4+2insT - APRT_000027 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3) g.88876476dup g.88810068dup IVS4+2insT - APRT_000027 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3) g.88876476dup g.88810068dup IVS4+2insT - APRT_000027 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3) g.88876476dup g.88810068dup IVS4+2insT - APRT_000027 no variant found in 2nd allele PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3) g.88876476dup g.88810068dup IVS4+2insT - APRT_000027 no variant found in 2nd allele PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3) g.88876476dup g.88810068dup IVS4+2insT - APRT_000027 no variant found in 2nd allele PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3) g.88876476dup g.88810068dup IVS4+2insT - APRT_000027 no variant found in 2nd allele PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.401-51C>T likely benign r.(=) p.(=) g.88876299G>A - APRT(NM_000485.2):c.401-51C>T - APRT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.428T>C pathogenic (recessive) r.(?) p.(Leu143Pro) g.88876221A>G g.88809813A>G 2087T>C - APRT_000026 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.472_474del pathogenic (recessive) r.(?) p.(Glu158del) g.88876175_88876177del g.88809767_88809769del 2131_2133delGAG - APRT_000025 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.521_523del pathogenic (recessive) r.(?) p.(Phe174del) g.88876126_88876128del g.88809718_88809720del 2176_2178delTTC - APRT_000024 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.521_523del pathogenic (recessive) r.(?) p.(Phe174del) g.88876126_88876128del g.88809718_88809720del 2176_2178delTTC - APRT_000024 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.524C>T pathogenic (recessive) r.(?) p.(Ser175Phe) g.88876125G>A g.88809717G>A 2183C>T - APRT_000023 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.526C>T pathogenic (recessive) r.(?) p.(Leu176Phe) g.88876123G>A g.88809715G>A 2185C>T - APRT_000022 - PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
?/. - c.528C>T VUS r.(?) p.(=) g.88876121G>A - APRT(NM_000485.2):c.528C>T (p.(=)) - APRT_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.529C>T likely benign r.(?) p.(=) g.88876120G>A - APRT(NM_000485.2):c.529C>T (p.(=)) - APRT_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.532C>T pathogenic (recessive) r.(?) p.(Gln178*) g.88876117G>A g.88809709G>A - - APRT_000021 no variant found in 2nd allele PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.541T>C pathogenic (recessive) r.(?) p.(*181Argext*?) g.88876108A>G g.88809700A>G 2200T>C (X181Arg) - APRT_000020 no variant found in 2nd allele PubMed: Bollee 2010 - - Germline - - - 0 - Johan den Dunnen
?/. - c.*1430T>A VUS r.(=) p.(=) g.88874676A>T - CDT1(NM_030928.3):c.1631A>T (p.E544V) - APRT_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*1440G>A likely benign r.(=) p.(=) g.88874666C>T - CDT1(NM_030928.3):c.1621C>T (p.(Arg541Cys)) - APRT_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.*1451G>A benign r.(=) p.(=) g.88874655C>T - - - CDT1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.*1474G>C benign r.(=) p.(=) g.88874632C>G - CDT1(NM_030928.3):c.1587C>G (p.L529=) - CDT1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.*1474G>C benign r.(=) p.(=) g.88874632C>G - CDT1(NM_030928.3):c.1587C>G (p.L529=) - CDT1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.*1588G>C likely benign r.(=) p.(=) g.88874518C>G - CDT1(NM_030928.3):c.1478-5C>G - APRT_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*2191_*2212dup likely benign r.(=) p.(=) g.88873903_88873924dup - CDT1(NM_030928.3):c.1477+3_1477+4insCGTGCAGGGCGGGGTGAAGGGG (p.?) - APRT_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.*2221C>T VUS r.(=) p.(=) g.88873885G>A - CDT1(NM_030928.3):c.1472G>A (p.(Ser491Asn)) - CDT1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.*2282G>C likely benign r.(=) p.(=) g.88873824C>G - - - CDT1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.*2308C>T pathogenic r.(=) p.(=) g.88873798G>A - - - CDT1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.*2326T>G VUS r.(=) p.(=) g.88873780A>C - CDT1(NM_030928.3):c.1367A>C (p.(Glu456Ala)) - CDT1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.*2392T>G VUS r.(=) p.(=) g.88873714A>C - CDT1(NM_030928.3):c.1301A>C (p.Q434P, p.(Gln434Pro)) - CDT1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.*2392T>G VUS r.(=) p.(=) g.88873714A>C - CDT1(NM_030928.3):c.1301A>C (p.Q434P, p.(Gln434Pro)) - CDT1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*3179C>A likely benign r.(=) p.(=) g.88872927G>T - CDT1(NM_030928.3):c.967G>T (p.(Val323Leu)) - APRT_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.*3572C>A VUS r.(=) p.(=) g.88872534G>T - CDT1(NM_030928.3):c.933+5G>T (p.?) - CDT1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.*3594C>T likely benign r.(=) p.(=) g.88872512G>A - CDT1(NM_030928.3):c.916G>A (p.(Val306Ile)) - APRT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.*3595A>G benign r.(=) p.(=) g.88872511T>C - CDT1(NM_030928.3):c.915T>C (p.H305=) - CDT1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.*3595A>G benign r.(=) p.(=) g.88872511T>C - CDT1(NM_030928.3):c.915T>C (p.H305=) - CDT1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.*3595A>G benign r.(=) p.(=) g.88872511T>C - CDT1(NM_030928.3):c.915T>C (p.H305=) - CDT1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.*3877T>C benign r.(=) p.(=) g.88872229A>G - CDT1(NM_030928.3):c.784A>G (p.T262A) - CDT1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.*3877T>C benign r.(=) p.(=) g.88872229A>G - CDT1(NM_030928.3):c.784A>G (p.T262A) - CDT1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.*3937C>T VUS r.(=) p.(=) g.88872169G>A - CDT1(NM_030928.3):c.724G>A (p.(Val242Met)) - APRT_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.*3961A>G benign r.(=) p.(=) g.88872145T>C - CDT1(NM_030928.3):c.700T>C (p.C234R) - CDT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.*3961A>G benign r.(=) p.(=) g.88872145T>C - CDT1(NM_030928.3):c.700T>C (p.C234R) - CDT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.*3961A>G benign r.(=) p.(=) g.88872145T>C - CDT1(NM_030928.3):c.700T>C (p.C234R) - CDT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.*4108C>T likely benign r.(=) p.(=) g.88871998G>A - CDT1(NM_030928.3):c.639G>A (p.T213=) - APRT_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*4134C>T likely benign r.(=) p.(=) g.88871972G>A - CDT1(NM_030928.3):c.613G>A (p.(Gly205Ser)) - CDT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*4155G>A likely benign r.(=) p.(=) g.88871951C>T - CDT1(NM_030928.3):c.592C>T (p.(Arg198Cys)) - APRT_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.*4198T>C benign r.(=) p.(=) g.88871908A>G - - - CDT1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.*4815C>T VUS r.(=) p.(=) g.88871291G>A - CDT1(NM_030928.3):c.473G>A (p.(Arg158His)) - CDT1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.*4853C>T benign r.(=) p.(=) g.88871253G>A - - - CDT1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.*4917G>T VUS r.(=) p.(=) g.88871189C>A - CDT1(NM_030928.3):c.371C>A (p.(Ala124Glu)) - CDT1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.*5054G>A likely benign r.(=) p.(=) g.88871052C>T - CDT1(NM_030928.3):c.328C>T (p.(His110Tyr)) - APRT_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.*5090T>C VUS r.(=) p.(=) g.88871016A>G - CDT1(NM_030928.3):c.292A>G (p.(Ile98Val)) - CDT1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.*5139A>G benign r.(=) p.(=) g.88870967T>C - CDT1(NM_030928.3):c.243T>C (p.S81=) - CDT1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.*5139A>G benign r.(=) p.(=) g.88870967T>C - CDT1(NM_030928.3):c.243T>C (p.S81=) - CDT1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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