Full data view for gene TOR1AIP1

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

26 entries on 1 page. Showing entries 1 - 26.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Gender     

Consanguinity     

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Age/Death     

VIP     

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Panel size     

Owner     
-?/. - c.70C>G r.(?) p.(Pro24Ala) Unknown - likely benign g.179851707C>G g.179882572C>G TOR1AIP1(NM_001267578.1):c.70C>G (p.P24A) - TOR1AIP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.70C>G r.(?) p.(Pro24Ala) Unknown - - g.179851707C>G g.179882572C>G - - TOR1AIP1_000005 3 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs146976883 Germline - 3/2780 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 3 Mohammed Faruq
+/. - c.128del r.(?) p.(Pro43Leufs*15) Parent #2 - pathogenic (recessive) 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 r.(?) p.(Pro49del) Unknown - VUS g.179851781_179851783del g.179882646_179882648del - - 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 r.(?) p.(Met146Thr) Unknown - benign g.179852074T>C g.179882939T>C TOR1AIP1(NM_001267578.1):c.437T>C (p.M146T) - TOR1AIP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.554-1G>A r.spl? p.? Unknown - benign g.179858444G>A g.179889309G>A TOR1AIP1(NM_001267578.1):c.554-1G>A - TOR1AIP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.579G>A r.(?) p.(=) Unknown - benign g.179858470G>A g.179889335G>A TOR1AIP1(NM_001267578.1):c.579G>A (p.R193=) - TOR1AIP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.830C>G r.(?) p.(Pro277Arg) Unknown - benign g.179876988C>G g.179907853C>G TOR1AIP1(NM_001267578.1):c.830C>G (p.P277R) - TOR1AIP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.841+12G>A r.(=) p.(=) Unknown - likely benign g.179877011G>A g.179907876G>A TOR1AIP1(NM_001267578.1):c.841+12G>A - TOR1AIP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.841+16T>G r.(=) p.(=) Unknown - likely benign g.179877015T>G g.179907880T>G TOR1AIP1(NM_001267578.1):c.841+16T>G - TOR1AIP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.882A>C r.(?) p.(Gln294His) Unknown - benign g.179877780A>C g.179908645A>C TOR1AIP1(NM_001267578.1):c.882A>C (p.Q294H) - TOR1AIP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.912T>C r.(?) p.(=) Unknown - likely benign g.179883134T>C g.179913999T>C TOR1AIP1(NM_001267578.1):c.912T>C (p.N304=, p.(=)) - TOR1AIP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.912T>C r.(?) p.(=) Unknown - VUS g.179883134T>C g.179913999T>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 r.(?) p.(Arg322*) Both (homozygous) - pathogenic (recessive) g.179883186C>T g.179914051C>T 961C>T (Arg321*) - TOR1AIP1_000015 - - - - Germline yes - - 0 - DNA, protein SEQ-NG-I - - CCTRCT - - - - - Israel Arab Muslim - 0 - - 7 Ronen Spiegel
-/. - c.967+1G>A r.spl? p.? Unknown - - g.179883190G>A g.179914055G>A - - TOR1AIP1_000021 49 heterozygous, 1 homozygous; Clinindb (India) Faruq 2020, submtted - rs2274955 Germline - 50/2741 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 50 Mohammed Faruq
-/. - c.967+17A>G r.(=) p.(=) Unknown - benign g.179883206A>G g.179914071A>G TOR1AIP1(NM_001267578.1):c.967+17A>G - TOR1AIP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1150G>A r.(?) p.(Asp384Asn) Unknown - - g.179886769G>A g.179917634G>A - - TOR1AIP1_000022 5 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs149690630 Germline - 5/2790 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 5 Mohammed Faruq
+/. - c.1184T>C r.(?) p.(Leu395Pro) Parent #1 - pathogenic (recessive) g.179886803T>C g.179917668T>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 r.(?) p.(Ala477Val) Unknown - VUS g.179887049C>T g.179917914C>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 r.(?) p.(=) Unknown - benign g.179887125G>A g.179917990G>A TOR1AIP1(NM_001267578.1):c.1506G>A (p.A502=) - TOR1AIP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1617C>A r.(?) p.(=) Unknown - likely benign g.179887236C>A g.179918101C>A - - TOR1AIP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1753T>C r.(?) p.(Ter585Glnext*?) Unknown ACMG VUS g.179887372T>C g.179918237T>C - - TOR1AIP1_000023 - - - - Germline - - - 0 - DNA SEQ-NG-S - - ? - - - M - - - - 0 - - 1 Andreas Laner
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