Full data view for gene AFF3

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

45 entries on 1 page. Showing entries 1 - 45.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-144-7143T>C r.(=) p.(=) Unknown - likely benign g.100729188A>G - AFF3(NM_001386135.1):c.-144-7143T>C - AFF3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_24_ c.-236_*4221{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_100163715)_(100925816_?)del - - 2q11.2 AFF3_000003 500kb deletion 2q11.2, breakpoints located between RP11-622B21 and RP11-609J13 (proximal) and RP11-30G7 and RP11-549H5 (distal) Journal: Steichen-Gersdorf 2008, Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD patient;Pat18 Journal: Steichen-Gersdorf 2008, Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents F - Germany - - - - - 1 Johan den Dunnen
+/. - c.(?_53+16486)_(1185-17727_?)del r.? p.? Unknown - pathogenic (dominant) g.(?_100235810)_(100704378_?)del - - - AFF3_000010 469 kb deletion Journal: Voisin 2021, Journal: Voisin 2021 - - De novo - - - - - DNA arraySNP, SEQ-NG - - NDD Pat16 Journal: Voisin 2021, Journal: Voisin 2021 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.175-5T>C r.spl? p.? Unknown - likely benign g.100623927A>G - AFF3(NM_002285.3):c.175-5T>C - AFF3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.228T>A r.(?) p.(Tyr76*) Unknown - likely pathogenic g.100623869A>T - - - AFF3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.691C>T r.(?) p.(Pro231Ser) Unknown - pathogenic (dominant) g.100623276G>A g.100006814G>A - - AFF3_000008 - Journal: Voisin 2021, Journal: Voisin 2021 - - De novo - - - - - DNA SEQ-NG - WES NDD Pat1 Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.692C>T r.(?) p.(Pro231Leu) Unknown - pathogenic (dominant) g.100623275G>A g.100006813G>A - - AFF3_000009 - Journal: Voisin 2021, Journal: Voisin 2021 - - De novo - - - - - DNA SEQ-NG - - NDD Pat2 Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.697G>A r.(?) p.(Ala233Thr) Unknown - pathogenic (dominant) g.100623270C>T g.100006808C>T - - AFF3_000007 - Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pro3;Pat7 Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.697G>A r.(?) p.(Ala233Thr) Unknown - pathogenic (dominant) g.100623270C>T g.100006808C>T - - AFF3_000007 - Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pro4;Pat8 Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.697G>A r.(?) p.(Ala233Thr) Unknown - pathogenic (dominant) g.100623270C>T g.100006808C>T - - AFF3_000007 - Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pro5;Pat9 Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 - F - - - - - - - 1 Johan den Dunnen
+/. - c.697G>A r.(?) p.(Ala233Thr) Unknown - pathogenic (dominant) g.100623270C>T g.100006808C>T - - AFF3_000007 - Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pro6;Pat10 Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.697G>A r.(?) p.(Ala233Thr) Unknown - pathogenic (dominant) g.100623270C>T g.100006808C>T - - AFF3_000007 - Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pro7;Pat11 Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.697G>A r.(?) p.(Ala233Thr) Unknown - pathogenic (dominant) g.100623270C>T g.100006808C>T - - AFF3_000007 - Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pro8;Pat12 Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.697G>A r.(?) p.(Ala233Thr) Unknown - pathogenic (dominant) g.100623270C>T g.100006808C>T - - AFF3_000007 - PubMed: Shimizu 2019 - - De novo - - - - - DNA SEQ-NG - - NDD patient PubMed: Shimizu 2019 - F - Japan - - - - - 1 Johan den Dunnen
+/. - c.697G>T r.(?) p.(Ala233Ser) Unknown - pathogenic (dominant) g.100623270C>A g.100006808C>A - - AFF3_000006 - Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pro1;Pat3 Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.697G>T r.(?) p.(Ala233Ser) Unknown - pathogenic (dominant) g.100623270C>A g.100006808C>A - - AFF3_000006 - Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pro2;Pat4 Journal: Voisin 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.697G>T r.(?) p.(Ala233Ser) Unknown - pathogenic (dominant) g.100623270C>A g.100006808C>A - - AFF3_000006 - Journal: Voisin 2021, Journal: Voisin 2021 - - De novo - - - - - DNA SEQ-NG - - NDD Pat5 Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.697G>T r.(?) p.(Ala233Ser) Unknown - pathogenic (dominant) g.100623270C>A g.100006808C>A - - AFF3_000006 - Journal: Voisin 2021, Journal: Voisin 2021 - - De novo - - - - - DNA SEQ-NG - - NDD Pat6 Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.698C>T r.(?) p.(Ala233Val) Unknown - pathogenic (dominant) g.100623269G>A g.100006807G>A NM_001025108.1:c.773C>T - AFF3_000005 - Journal: Voisin 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat13 Journal: Voisin 2019 - M - - - - - - - 1 Johan den Dunnen
+/. - c.698C>T r.(?) p.(Ala233Val) Unknown - pathogenic (dominant) g.100623269G>A g.100006807G>A - - AFF3_000005 - Journal: Voisin 2021, Journal: Voisin 2021 - - De novo - - - - - DNA SEQ-NG - - NDD Pat13 Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.698C>T r.(?) p.(Ala233Val) Unknown - pathogenic (dominant) g.100623269G>A g.100006807G>A - - AFF3_000005 - Journal: Voisin 2021, Journal: Voisin 2021 - - De novo - - - - - DNA SEQ-NG - - NDD Pat14 2-generation family, 1 affected, unaffected non-carrier parents {DOI:Voisin 2021:33961779}, {DOI:Voisin 2021:10.1016/j.ajhg.2021.04.001} F - - - - - - - 1 Johan den Dunnen
+/. - c.704T>G r.(?) p.(Val235Gly) Unknown - pathogenic (dominant) g.100623263A>C g.100006801A>C - - AFF3_000004 - Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat14 Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - 1 Johan den Dunnen
?/. - c.718G>A r.(?) p.(Gly240Ser) Unknown - VUS g.100623249C>T - AFF3(NM_001386135.1):c.718G>A (p.(Gly240Ser)) - AFF3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.870G>T r.(?) p.(=) Unknown - VUS g.100623097C>A - AFF3(NM_001386135.1):c.870G>T (p.(Gly290=)) - AFF3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.874-2A>G r.spl? p.? Unknown - VUS g.100453988T>C - AFF3(NM_002285.2):c.874-2A>G (p.?) - AFF3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.936del r.(?) p.(Pro313Hisfs*60) Unknown - likely pathogenic g.100368750del - - - AFF3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1144-1793A>G r.(=) p.(=) Unknown - likely benign g.100267921T>C - AFF3(NM_001386135.1):c.1144-1793A>G - AFF3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1144-2A>G r.spl? p.? Unknown - VUS g.100266130T>C - AFF3(NM_001386135.1):c.1144-2A>G - AFF3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1258_1266del r.(?) p.(Gly420_Ser422del) Unknown - VUS g.100218010_100218018del - AFF3(NM_002285.3):c.1258_1266delGGCAGCAGC (p.G420_S422del) - AFF3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1344C>T r.(?) p.(=) Unknown - VUS g.100217924G>A - AFF3(NM_001386135.1):c.1344C>T (p.(Ser448=)) - AFF3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1369G>C r.(?) p.(Glu457Gln) Unknown - likely benign g.100217899C>G - AFF3(NM_001386135.1):c.1369G>C (p.(Glu457Gln)) - AFF3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1781_1785del r.(?) p.(Thr594SerfsTer72) Unknown - likely benign g.100210339_100210343del g.99593877_99593881del AFF3(NM_001386135.1):c.1781_1785del (p.(Thr594Serfs*72)) - AFF3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1788del r.(?) p.(Asp598ThrfsTer48) Unknown - likely benign g.100210336del g.99593874del AFF3(NM_001386135.1):c.1788del (p.(Asp598Thrfs*48)) - AFF3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1840C>G r.(?) p.(Leu614Val) Unknown - VUS g.100210283G>C - AFF3(NM_002285.2):c.1840C>G (p.(Leu614Val)) - AFF3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1973T>A r.(?) p.(Ile658Asn) Unknown - VUS g.100210150A>T - AFF3(NM_002285.2):c.1973T>A (p.(Ile658Asn)) - AFF3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2143G>A r.(?) p.(Gly715Arg) Unknown - likely benign g.100209980C>T - AFF3(NM_002285.2):c.2143G>A (p.(Gly715Arg)) - AFF3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2252A>T r.(?) p.(Asn751Ile) Unknown - VUS g.100209871T>A - AFF3(NM_002285.3):c.2252A>T (p.N751I) - AFF3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2402C>T r.(?) p.(Pro801Leu) Unknown - likely benign g.100209721G>A - AFF3(NM_001386135.1):c.2402C>T (p.(Pro801Leu)) - AFF3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2630G>A r.(?) p.(Arg877Gln) Unknown - likely benign g.100199423C>T - AFF3(NM_002285.2):c.2630G>A (p.(Arg877Gln)) - AFF3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2702G>A r.(?) p.(Arg901Gln) Unknown - likely benign g.100199351C>T - AFF3(NM_002285.3):c.2702G>A (p.R901Q) - AFF3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2779G>A r.(?) p.(Gly927Ser) Unknown - VUS g.100199274C>T - AFF3(NM_002285.2):c.2779G>A (p.(Gly927Ser)) - AFF3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2910C>T r.(?) p.(=) Unknown - likely benign g.100194797G>A - AFF3(NM_001386135.1):c.2910C>T (p.(Phe970=)) - AFF3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2911G>C r.(?) p.(Asp971His) Unknown - VUS g.100194796C>G - AFF3(NM_001386135.1):c.2911G>C (p.(Asp971His)) - AFF3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3142C>T r.(?) p.(His1048Tyr) Unknown - likely benign g.100176876G>A - AFF3(NM_002285.2):c.3142C>T (p.(His1048Tyr)) - AFF3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3143A>T r.(?) p.(His1048Leu) Unknown - VUS g.100176875T>A - AFF3(NM_002285.2):c.3143A>T (p.(His1048Leu)) - AFF3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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