Full data view for gene ATN1

Information The variants shown are described using the NM_001007026.1 transcript reference sequence.

209 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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     
-/. 5 c.(1439_1537)[ins12] CAG[19] r.(?) p.(Gln488_Gln502)[19] Parent #1 - benign g.(7045869_7045967)[ins12] - - - ATN1_000019 - PubMed: Komure 1995 - - Germline no - - - - DNA PCR - - Healthy/Control 07824105-con PubMed: Komure 1995 control chromosomes - - Japan - - - - - 2 Johan den Dunnen
?/. - c.214C>T - r.(?) p.(Arg72Trp) Unknown - VUS g.7043676C>T g.6934513C>T ATN1(NM_001007026.1):c.214C>T (p.R72W) - ATN1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.234G>C - r.(?) p.(Glu78Asp) Unknown - likely benign g.7043696G>C - ATN1(NM_001940.3):c.234G>C (p.(Glu78Asp)) - ATN1_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.279+3G>A - r.spl? p.? Unknown - likely benign g.7043744G>A - ATN1(NM_001007026.2):c.279+3G>A, ATN1(NM_001940.4):c.279+3G>A - ATN1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.279+3G>A - r.spl? p.? Unknown - likely benign g.7043744G>A - ATN1(NM_001007026.2):c.279+3G>A, ATN1(NM_001940.4):c.279+3G>A - ATN1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.325G>T - r.(?) p.(Asp109Tyr) Unknown - VUS g.7044755G>T - ATN1(NM_001940.3):c.325G>T (p.(Asp109Tyr)) - ATN1_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.332G>A - r.(?) p.(Arg111Gln) Unknown - VUS g.7044762G>A - ATN1(NM_001007026.2):c.332G>A (p.R111Q) - ATN1_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.824C>T - r.(?) p.(Pro275Leu) Unknown - VUS g.7045254C>T - ATN1(NM_001940.4):c.824C>T (p.P275L) - ATN1_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.832A>G - r.(?) p.(Thr278Ala) Unknown - VUS g.7045262A>G - ATN1(NM_001940.4):c.832A>G (p.(Thr278Ala)) - ATN1_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.856C>T - r.(?) p.(Pro286Ser) Unknown - likely benign g.7045286C>T - ATN1(NM_001940.4):c.856C>T (p.P286S) - ATN1_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.896C>T - r.(?) p.(Pro299Leu) Unknown - likely benign g.7045326C>T - ATN1(NM_001940.3):c.896C>T (p.(Pro299Leu)) - ATN1_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.987G>A - r.(?) p.(Leu329=) Unknown - likely benign g.7045417G>A g.6936254G>A ATN1(NM_001940.4):c.987G>A (p.L329=) - ATN1_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1039G>A - r.(?) p.(Glu347Lys) Unknown - likely benign g.7045469G>A g.6936306G>A ATN1(NM_001940.4):c.1039G>A (p.E347K) - ATN1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1044del - r.(?) p.(Gly349Alafs*23) Unknown - VUS g.7045476del g.6936313del 1044delG - ATN1_000136 - PubMed: Zhu 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES ? Trio80 PubMed: Zhu 2015 - F - United States - - - - - 1 Johan den Dunnen
-?/. - c.1353C>G - r.(?) p.(=) Unknown - likely benign g.7045783C>G - ATN1(NM_001940.4):c.1353C>G (p.(Leu451=)) - ATN1_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1392C>T - r.(?) p.(Pro464=) Unknown - likely benign g.7045822C>T - ATN1(NM_001940.4):c.1392C>T (p.P464=) - ATN1_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.(1445_1537)ins[117] CAG[54] r.(?) p.(Gln488_Gln502)[54] Parent #1 - pathogenic (dominant) g.(7045875_7045967)ins[117] g.(6936712_6936804)ins[117] - - ATN1_000125 - PubMed: Koide 1994 - - Germline - - - - - DNA PCR - - DRPLA patient PubMed: Koide 1994 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(1445_1537)ins[135] CAG[60] r.(?) p.(Gln488_Gln502)[60] Parent #1 - pathogenic (dominant) g.(7045875_7045967)ins[135] g.(6936712_6936804)ins[135] - - ATN1_000124 - PubMed: Koide 1994 - - Germline - - - - - DNA PCR - - DRPLA patient PubMed: Koide 1994 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(1445_1537)ins[138] CAG[61] r.(?) p.(Gln488_Gln502)[61] Parent #1 - pathogenic (dominant) g.(7045875_7045967)ins[138] g.(6936712_6936804)ins[138] - - ATN1_000123 - PubMed: Koide 1994 - - Germline - - - - - DNA PCR - - DRPLA patient PubMed: Koide 1994 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(1445_1537)ins[138] CAG[61] r.(?) p.(Gln488_Gln502)[61] Parent #1 - pathogenic (dominant) g.(7045875_7045967)ins[138] g.(6936712_6936804)ins[138] - - ATN1_000123 - PubMed: Koide 1994 - - Germline - - - - - DNA PCR - - DRPLA patient PubMed: Koide 1994 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(1445_1537)ins[138] CAG[61] r.(?) p.(Gln488_Gln502)[61] Parent #1 - pathogenic (dominant) g.(7045875_7045967)ins[138] g.(6936712_6936804)ins[138] - - ATN1_000123 - PubMed: Koide 1994 - - Germline - - - - - DNA PCR - - DRPLA patient PubMed: Koide 1994 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(1445_1537)ins[141] CAG[62] r.(?) p.(Gln488_Gln502)[62] Parent #1 - pathogenic (dominant) g.(7045875_7045967)ins[141] g.(6936712_6936804)ins[141] - - ATN1_000122 - PubMed: Koide 1994 - - Germline - - - - - DNA PCR - - DRPLA patient PubMed: Koide 1994 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(1445_1537)ins[141] CAG[62] r.(?) p.(Gln488_Gln502)[62] Parent #1 - pathogenic (dominant) g.(7045875_7045967)ins[141] g.(6936712_6936804)ins[141] - - ATN1_000122 - PubMed: Koide 1994 - - Germline - - - - - DNA PCR - - DRPLA patient PubMed: Koide 1994 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(1445_1537)ins[144] CAG[63] r.(?) p.(Gln488_Gln502)[63] Parent #1 - pathogenic (dominant) g.(7045875_7045967)ins[144] g.(6936712_6936804)ins[144] - - ATN1_000121 - PubMed: Koide 1994 - - Germline - - - - - DNA PCR - - DRPLA patient PubMed: Koide 1994 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(1445_1537)ins[144] CAG[63] r.(?) p.(Gln488_Gln502)[63] Parent #1 - pathogenic (dominant) g.(7045875_7045967)ins[144] g.(6936712_6936804)ins[144] - - ATN1_000121 - PubMed: Koide 1994 - - Germline - - - - - DNA PCR - - DRPLA patient PubMed: Koide 1994 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(1445_1537)ins[147] CAG[64] r.(?) p.(Gln488_Gln502)[64] Parent #1 - pathogenic (dominant) g.(7045875_7045967)ins[147] g.(6936712_6936804)ins[147] - - ATN1_000120 - PubMed: Koide 1994 - - Germline - - - - - DNA PCR - - DRPLA patient PubMed: Koide 1994 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(1445_1537)ins[147] CAG[64] r.(?) p.(Gln488_Gln502)[64] Parent #1 - pathogenic (dominant) g.(7045875_7045967)ins[147] g.(6936712_6936804)ins[147] - - ATN1_000120 - PubMed: Koide 1994 - - Germline - - - - - DNA PCR - - DRPLA patient PubMed: Koide 1994 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(1445_1537)ins[147] CAG[64] r.(?) p.(Gln488_Gln502)[64] Parent #1 - pathogenic (dominant) g.(7045875_7045967)ins[147] g.(6936712_6936804)ins[147] - - ATN1_000120 - PubMed: Koide 1994 - - Germline - - - - - DNA PCR - - DRPLA patient PubMed: Koide 1994 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(1445_1537)ins[150] CAG[65] r.(?) p.(Gln488_Gln502)[65] Parent #1 - pathogenic (dominant) g.(7045875_7045967)ins[150] g.(6936712_6936804)ins[150] - - ATN1_000119 - PubMed: Koide 1994 - - Germline - - - - - DNA PCR - - DRPLA patient PubMed: Koide 1994 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(1445_1537)ins[150] CAG[65] r.(?) p.(Gln488_Gln502)[65] Parent #1 - pathogenic (dominant) g.(7045875_7045967)ins[150] g.(6936712_6936804)ins[150] - - ATN1_000119 - PubMed: Koide 1994 - - Germline - - - - - DNA PCR - - DRPLA patient PubMed: Koide 1994 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(1445_1537)ins[156] CAG[67] r.(?) p.(Gln488_Gln502)[67] Parent #1 - pathogenic (dominant) g.(7045875_7045967)ins[156] g.(6936712_6936804)ins[156] - - ATN1_000118 - PubMed: Koide 1994 - - Germline - - - - - DNA PCR - - DRPLA patient PubMed: Koide 1994 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(1445_1537)ins[156] CAG[67] r.(?) p.(Gln488_Gln502)[67] Parent #1 - pathogenic (dominant) g.(7045875_7045967)ins[156] g.(6936712_6936804)ins[156] - - ATN1_000118 - PubMed: Koide 1994 - - Germline - - - - - DNA PCR - - DRPLA patient PubMed: Koide 1994 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(1445_1537)ins[159] CAG[68] r.(?) p.(Gln488_Gln502)[68] Parent #1 - pathogenic (dominant) g.(7045875_7045967)ins[159] g.(6936712_6936804)ins[159] - - ATN1_000117 - PubMed: Koide 1994 - - Germline - - - - - DNA PCR - - DRPLA patient PubMed: Koide 1994 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(1445_1537)ins[159] CAG[68] r.(?) p.(Gln488_Gln502)[68] Parent #1 - pathogenic (dominant) g.(7045875_7045967)ins[159] g.(6936712_6936804)ins[159] - - ATN1_000117 - PubMed: Koide 1994 - - Germline - - - - - DNA PCR - - DRPLA patient PubMed: Koide 1994 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(1445_1537)ins[159] CAG[68] r.(?) p.(Gln488_Gln502)[68] Parent #1 - pathogenic (dominant) g.(7045875_7045967)ins[159] g.(6936712_6936804)ins[159] - - ATN1_000117 - PubMed: Koide 1994 - - Germline - - - - - DNA PCR - - DRPLA patient PubMed: Koide 1994 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.(1445_1537)ins[159] CAG[68] r.(?) p.(Gln488_Gln502)[68] Parent #1 - pathogenic (dominant) g.(7045875_7045967)ins[159] g.(6936712_6936804)ins[159] - - ATN1_000117 - PubMed: Koide 1994 - - Germline - - - - - DNA PCR - - DRPLA patient PubMed: Koide 1994 - - - Japan - - - - - 1 Johan den Dunnen
-/. 5 c.(1439_1537)[del0] CAG[15] r.(?) p.(Gln488_Gln502)[15] Parent #1 - benign g.(7045869_7045967)[del0] - - - ATN1_000015 - PubMed: Komure 1995 - - Germline no - - - - DNA PCR - - Healthy/Control 07824105-con PubMed: Komure 1995 control chromosomes - - Japan - - - - - 8 Johan den Dunnen
-/. 5 c.(1439_1537)[del12] CAG[11] r.(?) p.(Gln488_Gln502)[11] Parent #1 - benign g.(7045869_7045967)[del12] - - - ATN1_000011 - PubMed: Komure 1995 - - Germline no - - - - DNA PCR - - Healthy/Control 07824105-con PubMed: Komure 1995 control chromosomes - - Japan - - - - - 3 Johan den Dunnen
-/. 5 c.(1439_1537)[del15] CAG[10] r.(?) p.(Gln488_Gln502)[10] Parent #1 - benign g.(7045869_7045967)[del15] - - - ATN1_000010 - PubMed: Komure 1995 - - Germline no - - - - DNA PCR - - Healthy/Control 07824105-con PubMed: Komure 1995 control chromosomes - - Japan - - - - - 10 Johan den Dunnen
-/. 5 c.(1439_1537)[del24] CAG[7] r.(?) p.(Gln488_Gln502)[7] Parent #1 - benign g.(7045869_7045967)[del24] - - - ATN1_000007 - PubMed: Komure 1995 - - Germline no - - - - DNA PCR - - Healthy/Control 07824105-con PubMed: Komure 1995 control chromosomes - - Japan - - - - - 1 Johan den Dunnen
-/. 5 c.(1439_1537)[del6] CAG[13] r.(?) p.(Gln488_Gln502)[13] Parent #1 - benign g.(7045869_7045967)[del6] - - - ATN1_000013 - PubMed: Komure 1995 - - Germline no - - - - DNA PCR - - Healthy/Control 07824105-con PubMed: Komure 1995 control chromosomes - - Japan - - - - - 2 Johan den Dunnen
-/. 5 c.(1439_1537)[del9] CAG[12] r.(?) p.(Gln488_Gln502)[12] Parent #1 - benign g.(7045869_7045967)[del9] - - - ATN1_000012 - PubMed: Komure 1995 - - Germline no - - - - DNA PCR - - Healthy/Control 07824105-con PubMed: Komure 1995 control chromosomes - - Japan - - - - - 3 Johan den Dunnen
+/. 5 c.(1439_1537)[ins114] CAG[53] r.(?) p.(Gln488_Gln502)[53] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins114] - - - ATN1_000053 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Fam2Pat10 PubMed: Komure 1995 3-generation family, 6 affecteds (3F, 3M), grandfather - - Japan - - - - - 6 Johan den Dunnen
+/. 5 c.(1439_1537)[ins123] CAG[56] r.(?) p.(Gln488_Gln502)[56] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins123] - - - ATN1_000056 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins123] CAG[56] r.(?) p.(Gln488_Gln502)[56] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins123] - - - ATN1_000056 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat38 PubMed: Komure 1995 38 affecteds from 12 families - - Japan - 46y - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins126] CAG[57] r.(?) p.(Gln488_Gln502)[57] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins126] - - - ATN1_000057 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins129] CAG[58] r.(?) p.(Gln488_Gln502)[58] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins129] - - - ATN1_000058 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins129] CAG[58] r.(?) p.(Gln488_Gln502)[58] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins129] - - - ATN1_000058 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins129] CAG[58] r.(?) p.(Gln488_Gln502)[58] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins129] - - - ATN1_000058 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins129] CAG[58] r.(?) p.(Gln488_Gln502)[58] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins129] - - - ATN1_000058 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins132] CAG[59] r.(?) p.(Gln488_Gln502)[59] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins132] - - - ATN1_000059 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - ID 07824105-Pat24 PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins132] CAG[59] r.(?) p.(Gln488_Gln502)[59] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins132] - - - ATN1_000059 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins132] CAG[59] r.(?) p.(Gln488_Gln502)[59] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins132] - - - ATN1_000059 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins132] CAG[59] r.(?) p.(Gln488_Gln502)[59] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins132] - - - ATN1_000059 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins135] CAG[60] r.(?) p.(Gln488_Gln502)[60] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins135] - - - ATN1_000060 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins135] CAG[60] r.(?) p.(Gln488_Gln502)[60] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins135] - - - ATN1_000060 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins135] CAG[60] r.(?) p.(Gln488_Gln502)[60] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins135] - - - ATN1_000060 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins135] CAG[60] r.(?) p.(Gln488_Gln502)[60] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins135] - - - ATN1_000060 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins138] CAG[61] r.(?) p.(Gln488_Gln502)[61] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins138] - - - ATN1_000061 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Fam2Pat11 PubMed: Komure 1995 son Fam2Pat11 - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins138] CAG[61] r.(?) p.(Gln488_Gln502)[61] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins138] - - - ATN1_000061 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins141] CAG[62] r.(?) p.(Gln488_Gln502)[62] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins141] - - - ATN1_000062 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins141] CAG[62] r.(?) p.(Gln488_Gln502)[62] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins141] - - - ATN1_000062 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins144] CAG[63] r.(?) p.(Gln488_Gln502)[63] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins144] - - - ATN1_000063 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins144] CAG[63] r.(?) p.(Gln488_Gln502)[63] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins144] - - - ATN1_000063 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins147] CAG[64] r.(?) p.(Gln488_Gln502)[64] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins147] - - - ATN1_000064 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins147] CAG[64] r.(?) p.(Gln488_Gln502)[64] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins147] - - - ATN1_000064 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins150] CAG[65] r.(?) p.(Gln488_Gln502)[65] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins150] - - - ATN1_000065 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins150] CAG[65] r.(?) p.(Gln488_Gln502)[65] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins150] - - - ATN1_000065 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins150] CAG[65] r.(?) p.(Gln488_Gln502)[65] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins150] - - - ATN1_000065 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins150] CAG[65] r.(?) p.(Gln488_Gln502)[65] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins150] - - - ATN1_000065 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins150] CAG[65] r.(?) p.(Gln488_Gln502)[65] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins150] - - - ATN1_000065 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins153] CAG[66] r.(?) p.(Gln488_Gln502)[66] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins153] - - - ATN1_000066 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins153] CAG[66] r.(?) p.(Gln488_Gln502)[66] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins153] - - - ATN1_000066 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins153] CAG[66] r.(?) p.(Gln488_Gln502)[66] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins153] - - - ATN1_000066 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins153] CAG[66] r.(?) p.(Gln488_Gln502)[66] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins153] - - - ATN1_000066 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins156] CAG[67] r.(?) p.(Gln488_Gln502)[67] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins156] - - - ATN1_000067 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Fam2Pat12 PubMed: Komure 1995 grandson Fam2Pat12 - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins159] CAG[68] r.(?) p.(Gln488_Gln502)[68] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins159] - - - ATN1_000068 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
-/. 5 c.(1439_1537)[ins15] CAG[20] r.(?) p.(Gln488_Gln502)[20] Parent #1 - benign g.(7045869_7045967)[ins15] - - - ATN1_000020 - PubMed: Komure 1995 - - Germline no - - - - DNA PCR - - Healthy/Control 07824105-con PubMed: Komure 1995 control chromosomes - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins171] CAG[72] r.(?) p.(Gln488_Gln502)[72] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins171] - - - ATN1_000072 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins177] CAG[74] r.(?) p.(Gln488_Gln502)[74] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins177] - - - ATN1_000074 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
-/. 5 c.(1439_1537)[ins18] CAG[21] r.(?) p.(Gln488_Gln502)[21] Parent #1 - benign g.(7045869_7045967)[ins18] - - - ATN1_000021 - PubMed: Komure 1995 - - Germline no - - - - DNA PCR - - Healthy/Control 07824105-con PubMed: Komure 1995 control chromosomes - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.(1439_1537)[ins219] CAG[88] r.(?) p.(Gln488_Gln502)[88] Parent #1 - pathogenic (dominant) g.(7045869_7045967)[ins219] - - - ATN1_000088 - PubMed: Komure 1995 - - Germline yes - - - - DNA PCR - - DRPLA 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - - - - 1 Johan den Dunnen
-/. 5 c.(1439_1537)[ins21] CAG[22] r.(?) p.(Gln488_Gln502)[22] Parent #1 - benign g.(7045869_7045967)[ins21] - - - ATN1_000022 - PubMed: Komure 1995 - - Germline no - - - - DNA PCR - - Healthy/Control 07824105-con PubMed: Komure 1995 control chromosomes - - Japan - - - - - 1 Johan den Dunnen
-/. 5 c.(1439_1537)[ins24] CAG[23] r.(?) p.(Gln488_Gln502)[23] Parent #1 - benign g.(7045869_7045967)[ins24] - - - ATN1_000023 - PubMed: Komure 1995 - - Germline no - - - - DNA PCR - - Healthy/Control 07824105-con PubMed: Komure 1995 control chromosomes - - Japan - - - - - 1 Johan den Dunnen
-/. 5 c.(1439_1537)[ins3] CAG[16] r.(?) p.(Gln488_Gln502)[16] Parent #1 - benign g.(7045869_7045967)[ins3] - - - ATN1_000016 - PubMed: Komure 1995 - - Germline no - - - - DNA PCR - - Healthy/Control 07824105-con PubMed: Komure 1995 control chromosomes - - Japan - - - - - 7 Johan den Dunnen
-/. 5 c.(1439_1537)[ins6] CAG[17] r.(?) p.(Gln488_Gln502)[17] Parent #1 - benign g.(7045869_7045967)[ins6] - - - ATN1_000017 - PubMed: Komure 1995 - - Germline no - - - - DNA PCR - - Healthy/Control 07824105-con PubMed: Komure 1995 control chromosomes - - Japan - - - - - 7 Johan den Dunnen
-/. 5 c.(1439_1537)[ins9] CAG[18] r.(?) p.(Gln488_Gln502)[18] Parent #1 - benign g.(7045869_7045967)[ins9] - - - ATN1_000018 - PubMed: Komure 1995 - - Germline no - - - - DNA PCR - - Healthy/Control 07824105-con PubMed: Komure 1995 control chromosomes - - Japan - - - - - 9 Johan den Dunnen
-?/. - c.1455_1469del - r.(?) p.(Gln498_Gln502del) Unknown - likely benign g.7045885_7045899del - ATN1(NM_001940.4):c.1455_1469del (p.(Gln498_Gln502del)) - ATN1_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1460_1461insGC - r.(?) p.(Gln488Hisfs*53) Unknown - likely benign g.7045890_7045891insGC - ATN1(NM_001940.3):c.1460_1461insGC (p.(Gln488fs)) - ATN1_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1461_1466del - r.(?) p.(Gln501_Gln502del) Unknown - likely benign g.7045891_7045896del g.6936728_6936733del ATN1(NM_001940.3):c.1461_1466delACAGCA (p.(Gln488_Gln489del)) - ATN1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1461_1469del - r.(?) p.(Gln500_Gln502del) Unknown - likely benign g.7045891_7045899del g.6936728_6936736del ATN1(NM_001007026.2):c.1461_1469delACAGCAGCA (p.Q500_Q502del) - ATN1_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1461_1472del - r.(?) p.(Gln499_Gln502del) Unknown - likely benign g.7045891_7045902del - ATN1(NM_001007026.2):c.1461_1472delACAGCAGCAGCA (p.Q499_Q502del) - ATN1_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1461_1487del - r.(?) p.(Gln494_Gln502del) Unknown - benign g.7045891_7045917del - ATN1(NM_001007026.2):c.1461_1487delACAGCAGCAGCAGCAGCAGCAGCAGCA (p.Q494_Q502del) - ATN1_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1472_1473insACAGCAGCA - r.(?) p.(Gln500_Gln502dup) Unknown - VUS g.7045902_7045903insACAGCAGCA - ATN1(NM_001940.4):c.1472_1473insACAGCAGCA (p.(Gln500_Gln502dup)) - ATN1_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1482_1508dup - r.(?) p.(Gln494_Gln502dup) Unknown - VUS g.7045912_7045938dup - ATN1(NM_001007026.2):c.1482_1508dupGCAGCAGCAGCAGCAGCAGCAGCAGCA (p.Q494_Q502dup) - ATN1_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1485_1508del - r.(?) p.(Gln495_Gln502del) Unknown - VUS g.7045915_7045938del - ATN1(NM_001940.4):c.1485_1508delGCAGCAGCAGCAGCAGCAGCAGCA (p.Q495_Q502del) - ATN1_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1485_1508dup - r.(?) p.(Gln495_Gln502dup) Unknown - likely benign g.7045915_7045938dup - ATN1(NM_001007026.2):c.1485_1508dupGCAGCAGCAGCAGCAGCAGCAGCA (p.Q495_Q502dup), ATN1(NM_001940.4):c.1485_1508dupGCAGCAGCAGCAGCAGCAGCAGCA (p.Q495_Q50...) - ATN1_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1485_1508dup - r.(?) p.(Gln495_Gln502dup) Unknown - benign g.7045915_7045938dup - ATN1(NM_001007026.2):c.1485_1508dupGCAGCAGCAGCAGCAGCAGCAGCA (p.Q495_Q502dup), ATN1(NM_001940.4):c.1485_1508dupGCAGCAGCAGCAGCAGCAGCAGCA (p.Q495_Q50...) - ATN1_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1488_1508del - r.(?) p.(Gln496_Gln502del) Unknown - likely benign g.7045918_7045938del g.6936755_6936775del ATN1(NM_001007026.2):c.1488_1508delGCAGCAGCAGCAGCAGCAGCA (p.Q496_Q502del) - ATN1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1488_1508del - r.(?) p.(Gln496_Gln502del) Both (homozygous) - likely benign g.7045918_7045938del g.6936755_6936775del - - ATN1_000090 - PubMed: Chia 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD FamPatII1 PubMed: Chia 2018 2-generation family, 2 affected, unaffectedheteroczugous carrier parents/sibs M yes Jordan - - - - - 4 Johan den Dunnen
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