Full data view for gene TOR1AIP1

Information The variants shown are described using the NM_001267578.1 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.70C>G likely benign r.(?) p.(Pro24Ala) Unknown g.179851707C>G - TOR1AIP1(NM_001267578.1):c.70C>G (p.P24A) - TOR1AIP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.128del pathogenic (recessive) r.(?) p.(Pro43Leufs*15) Parent #2 g.179851765del g.179882630del 179851763GC>G - TOR1AIP1_000017 RNA allele imbalance PubMed: Cummings 2017 - - Germline - - - 0 - DNA RT-PCR, SEQ, SEQ-NG - WES MD PatD4 PubMed: Cummings 2017 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.144_146del VUS r.(?) p.(Pro49del) Unknown g.179851781_179851783del - - - TOR1AIP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.186del - r.(?) p.(Glu62Aspfs*26) Both (homozygous) g.179851823del g.179882688del 186delG - TOR1AIP1_000003 genome-wide homozygosity mapping; not in 308 control chromosomes PubMed: Kayman-Kurekci 2014, Journal: Kayman-Kurekci 2014, OMIM:var0001 - rs879255612 Germline yes - - 0 - DNA SEQ, SEQ-NG - - LGMD-2Y 24856141-Fam PubMed: Kayman-Kurekci 2014, Journal: Kayman-Kurekci 2014 4-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents/sibs F;M yes Turkey - - 0 - - 3 Johan den Dunnen
-/. - c.437T>C benign r.(?) p.(Met146Thr) Unknown g.179852074T>C - TOR1AIP1(NM_001267578.1):c.437T>C (p.M146T) - TOR1AIP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.554-1G>A benign r.spl? p.? Unknown g.179858444G>A - TOR1AIP1(NM_001267578.1):c.554-1G>A - TOR1AIP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.579G>A benign r.(?) p.(=) Unknown g.179858470G>A - TOR1AIP1(NM_001267578.1):c.579G>A (p.R193=) - TOR1AIP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.830C>G benign r.(?) p.(Pro277Arg) Unknown g.179876988C>G - TOR1AIP1(NM_001267578.1):c.830C>G (p.P277R) - TOR1AIP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.841+12G>A likely benign r.(=) p.(=) Unknown g.179877011G>A - TOR1AIP1(NM_001267578.1):c.841+12G>A - TOR1AIP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.841+16T>G likely benign r.(=) p.(=) Unknown g.179877015T>G - TOR1AIP1(NM_001267578.1):c.841+16T>G - TOR1AIP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.882A>C benign r.(?) p.(Gln294His) Unknown g.179877780A>C - TOR1AIP1(NM_001267578.1):c.882A>C (p.Q294H) - TOR1AIP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.912T>C likely benign r.(?) p.(=) Unknown g.179883134T>C - TOR1AIP1(NM_001267578.1):c.912T>C (p.N304=, p.(=)) - TOR1AIP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.912T>C VUS r.(?) p.(=) Unknown g.179883134T>C - TOR1AIP1(NM_001267578.1):c.912T>C (p.N304=, p.(=)) - TOR1AIP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 9 c.945_948del - r.(?) p.(Gln315Hisfs*9) Paternal (confirmed) g.179883167_179883170del g.179914032_179914035del 943_946del - TOR1AIP1_000002 - - - - Germline yes - - 0 - DNA SEQ-NG-I whole blood - ? - - - - no - (not applicable) - - 0 - - 1 Davor Lessel
+/. 9 c.964C>T pathogenic (recessive) r.(?) p.(Arg322*) Both (homozygous) g.179883186C>T - 961C>T (Arg321*) - TOR1AIP1_000015 - - - - Germline yes - - 0 - DNA, protein SEQ-NG-I - - CCTRCT - - - - - Israel Arab Muslim - 0 - - 7 Ronen Spiegel
-/. - c.967+17A>G benign r.(=) p.(=) Unknown g.179883206A>G - TOR1AIP1(NM_001267578.1):c.967+17A>G - TOR1AIP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1184T>C pathogenic (recessive) r.(?) p.(Leu395Pro) Parent #1 g.179886803T>C g.179917671T>C - - TOR1AIP1_000018 RNA allele imbalance PubMed: Cummings 2017 - - Germline - - - 0 - DNA RT-PCR, SEQ, SEQ-NG - WES MD PatD4 PubMed: Cummings 2017 - - - - - - 0 - - 1 Johan den Dunnen
+/. 10 c.1331G>C - r.(?) p.(Arg444Pro) Maternal (confirmed) g.179886950G>C g.179917815G>C - - TOR1AIP1_000001 - - - - Germline yes - - 0 - DNA SEQ-NG-I whole blood - ? - - - - no - (not applicable) - - 0 - - 1 Davor Lessel
?/. - c.1430C>T VUS r.(?) p.(Ala477Val) Unknown g.179887049C>T - - - TOR1AIP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 10 c.1448A>C - r.(?) p.(Glu483Ala) Both (homozygous) g.179887067A>C g.179917932A>C - - TOR1AIP1_000004 located in a 6.8-Mb homozygosity region; not in 200 control chromosomes; reduced expression of LAP1 and mislocalization and aggregation in endoplasmic reticulum PubMed: Dorboz 2014, Journal: Dorboz 2014, OMIM:var0002 - rs886037845 Germline yes - - 0 - DNA SEQ, SEQ-NG - - ? 25425325-FamPatV1 PubMed: Dorboz 2014, Journal: Dorboz 2014 5-generation family, 1 affected, unaffected heterozygous carrier parents/sibs M yes Morocco - - 0 - - 1 Johan den Dunnen
-/. - c.1506G>A benign r.(?) p.(=) Unknown g.179887125G>A - TOR1AIP1(NM_001267578.1):c.1506G>A (p.A502=) - TOR1AIP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1617C>A likely benign r.(?) p.(=) Unknown g.179887236C>A - - - TOR1AIP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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