Unique variants in the ATXN10 gene

Information The variants shown are described using the NM_013236.3 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

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     

Owner     
-/. 1 9i c.(1174-11677_1174-11522)[del15_ins25] ATTCT[11_19] r.(?) p.(=) - benign g.(46191162_46191317)[del15_ins25] - - - ATXN10_000000 - PubMed: Matsuura 2000 - - Germline - 252/254 chromosomes - - - Johan den Dunnen
-/. 1 9i c.(1174-11677_1174-11522)[del15_ins30] ATTCT[11_20] r.(?) p.(=) - benign g.(46191162_46191317)[del15_ins30] - - - ATXN10_000000 - PubMed: Matsuura 2000 - - Germline - 100/100 chromosomes - - - Johan den Dunnen
-/. 1 9i c.(1174-11677_1174-11522)[del15_ins40] ATTCT[11_22] r.(?) p.(=) - benign g.(46191162_46191317)[del15_ins40] - - - ATXN10_000000 - PubMed: Matsuura 2000 - - Germline - 250/250 chromosomes - - - Johan den Dunnen
+/. 2 9i c.(1174-11677_1174-11522)[ins(4000_22400)] ATTCT[(800_4500)] r.? p.? - pathogenic g.(46191162_46191317)[ins(4000_22400)] - - - ATXN10_000000 - PubMed: Matsuura 2000, Journal: Matsuura 2000, OMIM:var0001 - - Germline yes - - - - Johan den Dunnen
+/. 1 9i c.(1174-11677_1174-11522)[ins4100] ATTCT[820] r.? p.? - pathogenic g.(46191162_46191317)[ins4100] - - - ATXN10_000004 - PubMed: Leonardi 2014 - - Germline - - - - - Johan den Dunnen
+/. 1 9i c.(1174-11677_1174-11522)[ins8750] ATTCT[1760] r.? p.? - pathogenic g.(46191162_46191317)[ins8750] - - - ATXN10_000003 - PubMed: Leonardi 2014 - - Germline yes - - - - Johan den Dunnen
-?/. 1 - c.76C>T - r.(?) p.(Leu26=) - likely benign g.46068019C>T g.45672139C>T ATXN10(NM_013236.3):c.76C>T (p.L26=) - ATXN10_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 5i c.647+1278_647+1279del - r.(?) p.(=) - likely benign g.46100005_46100006del g.45704125_45704126del - - ATXN10_000001 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.757A>C - r.(?) p.(Lys253Gln) - likely benign g.46125333A>C g.45729453A>C ATXN10(NM_013236.3):c.757A>C (p.K253Q) - ATXN10_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.801G>A - r.(?) p.(Val267=) - likely benign g.46125377G>A g.45729497G>A ATXN10(NM_001167621.1):c.609G>A (p.(=)) - ATXN10_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.894+10G>T - r.(=) p.(=) - likely benign g.46125480G>T g.45729600G>T ATXN10(NM_013236.3):c.894+10G>T, ATXN10(NM_013236.4):c.894+10G>T - ATXN10_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/. 1 8i c.1004-3T>G - r.spl? p.? - pathogenic g.46136246T>G g.45740366T>G IVS8-3T>G - ATXN10_000002 homozygosity region 11.6 Mb; variant not in 352 control chromosomes PubMed: Sang 2011 - - Germline yes - - - - Johan den Dunnen
-?/. 2 - c.1053C>T - r.(?) p.(Phe351=) - likely benign g.46136298C>T g.45740418C>T ATXN10(NM_013236.3):c.1053C>T (p.F351=), ATXN10(NM_013236.4):c.1053C>T (p.F351=) - ATXN10_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 1 9i c.1174-11559_1174-11535del ATTCT[10] r.(?) p.(=) - benign g.46191280_46191304del g.45795400_45795424del - - ATXN10_000006 - PubMed: Matsuura 2000 - - Germline - 1/254 chromosomes - - - Johan den Dunnen
-/. 1 9i c.1174-11559_1174-11535dup ATTCT[20] r.(?) p.(=) - benign g.46191280_46191304dup g.45795400_45795424dup - - ATXN10_000007 - PubMed: Matsuura 2000 - - Germline - 1/254 chromosomes - - - Johan den Dunnen
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