Unique variants in gene TOR1AIP1

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

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

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     
-/., -?/. 2 - c.70C>G r.(?) p.(Pro24Ala) - likely benign g.179851707C>G g.179882572C>G TOR1AIP1(NM_001267578.1):c.70C>G (p.P24A) - TOR1AIP1_000005 3 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland Faruq 2020, submtted - rs146976883 Germline, CLASSIFICATION record - 3/2780 individuals - - - Mohammed Faruq, VKGL-NL_AMC
+/. 1 - c.128del r.(?) p.(Pro43Leufs*15) - pathogenic (recessive) g.179851765del g.179882630del 179851763GC>G - TOR1AIP1_000017 RNA allele imbalance PubMed: Cummings 2017 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.144_146del r.(?) p.(Pro49del) - VUS g.179851781_179851783del g.179882646_179882648del - - TOR1AIP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 1 c.186del r.(?) p.(Glu62Aspfs*26) - - 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 - - - - Johan den Dunnen
-/. 1 - c.437T>C r.(?) p.(Met146Thr) - 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 - - - - - VKGL-NL_AMC
-/. 1 - c.554-1G>A r.spl? p.? - benign g.179858444G>A g.179889309G>A TOR1AIP1(NM_001267578.1):c.554-1G>A - TOR1AIP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.579G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_AMC
-/. 1 - c.830C>G r.(?) p.(Pro277Arg) - 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 - - - - - VKGL-NL_AMC
-?/. 1 - c.841+12G>A r.(=) p.(=) - 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 - - - - - VKGL-NL_AMC
-?/. 1 - c.841+16T>G r.(=) p.(=) - 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 - - - - - VKGL-NL_AMC
-/. 1 - c.882A>C r.(?) p.(Gln294His) - 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 - - - - - VKGL-NL_AMC
?/., -?/. 2 - c.912T>C r.(?) p.(=) - VUS, 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 - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
+/. 1 9 c.945_948del r.(?) p.(Gln315Hisfs*9) - - g.179883167_179883170del g.179914032_179914035del 943_946del - TOR1AIP1_000002 - - - - Germline yes - - - - Davor Lessel
+/. 1 9 c.964C>T r.(?) p.(Arg322*) - pathogenic (recessive) g.179883186C>T g.179914051C>T 961C>T (Arg321*) - TOR1AIP1_000015 - - - - Germline yes - - - - Ronen Spiegel
-/. 1 - c.967+1G>A r.spl? p.? - - g.179883190G>A g.179914055G>A - - TOR1AIP1_000021 49 heterozygous, 1 homozygous; Clinindb (India) Faruq 2020, submtted - rs2274955 Germline - 50/2741 individuals - - - Mohammed Faruq
-/. 1 - c.967+17A>G r.(=) p.(=) - benign g.179883206A>G g.179914071A>G TOR1AIP1(NM_001267578.1):c.967+17A>G - TOR1AIP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1150G>A r.(?) p.(Asp384Asn) - - g.179886769G>A g.179917634G>A - - TOR1AIP1_000022 5 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs149690630 Germline - 5/2790 individuals - - - Mohammed Faruq
+/. 1 - c.1184T>C r.(?) p.(Leu395Pro) - pathogenic (recessive) g.179886803T>C g.179917668T>C - - TOR1AIP1_000018 RNA allele imbalance PubMed: Cummings 2017 - - Germline - - - - - Johan den Dunnen
+/. 1 10 c.1331G>C r.(?) p.(Arg444Pro) - - g.179886950G>C g.179917815G>C - - TOR1AIP1_000001 - - - - Germline yes - - - - Davor Lessel
?/. 1 - c.1430C>T r.(?) p.(Ala477Val) - VUS g.179887049C>T g.179917914C>T - - TOR1AIP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 10 c.1448A>C r.(?) p.(Glu483Ala) - - g.179887067A>C g.179917932A>C - - TOR1AIP1_000004 1 more item PubMed: Dorboz 2014, Journal: Dorboz 2014, OMIM:var0002 - rs886037845 Germline yes - - - - Johan den Dunnen
-/. 1 - c.1506G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_AMC
-?/. 1 - c.1617C>A r.(?) p.(=) - likely benign g.179887236C>A g.179918101C>A - - TOR1AIP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1753T>C r.(?) p.(Ter585Glnext*?) ACMG VUS g.179887372T>C g.179918237T>C - - TOR1AIP1_000023 - - - - Germline - - - - - Andreas Laner
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