Full data view for gene IGBP1

Information The variants shown are described using the NM_001551.2 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

Exon     

AscendingDNA change (cDNA)     

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     
-?/. - c.62A>G r.(?) p.(Gln21Arg) Unknown - likely benign g.69353859A>G g.70134009A>G IGBP1(NM_001551.2):c.62A>G (p.Q21R) - IGBP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.111A>G r.(?) p.(Ile37Met) Unknown - likely benign g.69353908A>G - IGBP1(NM_001551.2):c.111A>G (p.I37M) - IGBP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.121_123del r.(?) p.(Lys41del) Unknown - VUS g.69353918_69353920del g.70134068_70134070del IGBP1(NM_001551.3):c.121_123delAAG (p.K41del) - IGBP1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.214G>C r.(?) p.(Ala72Pro) Parent #1 - VUS g.69354398G>C g.70134548G>C - - IGBP1_000007 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.235C>T r.(?) p.(Leu79Phe) Unknown - VUS g.69354419C>T g.70134569C>T IGBP1(NM_001551.2):c.235C>T (p.L79F) - IGBP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.317G>A r.(?) p.(Arg106Gln) Unknown - benign g.69354501G>A g.70134651G>A IGBP1(NM_001551.2):c.317G>A (p.R106Q) - IGBP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.439A>C r.(?) p.(Ser147Arg) Unknown - VUS g.69354623A>C g.70134773A>C IGBP1(NM_001551.2):c.439A>C (p.(Ser147Arg)) - IGBP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.451A>C r.(?) p.(Met151Leu) Unknown - VUS g.69354635A>C g.70134785A>C IGBP1(NM_001551.3):c.451A>C (p.M151L) - IGBP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.536T>C r.(?) p.(Val179Ala) Unknown - likely benign g.69366536T>C g.70146686T>C IGBP1(NM_001551.2):c.536T>C (p.V179A, p.(Val179Ala)) - IGBP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.536T>C r.(?) p.(Val179Ala) Unknown - likely benign g.69366536T>C g.70146686T>C IGBP1(NM_001551.2):c.536T>C (p.V179A, p.(Val179Ala)) - IGBP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.597G>A r.(=) p.(=) Parent #1 - likely benign g.69366597G>A g.70146747G>A R199R - IGBP1_000008 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.597G>A r.(?) p.(Arg199=) Unknown - likely benign g.69366597G>A g.70146747G>A IGBP1(NM_001551.2):c.597G>A (p.R199=) - IGBP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.608T>C r.(?) p.(Ile203Thr) Parent #1 - VUS g.69366608T>C g.70146758T>C - - IGBP1_000009 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.608T>C r.(?) p.(Ile203Thr) Unknown - likely benign g.69366608T>C - IGBP1(NM_001551.2):c.608T>C (p.I203T) - IGBP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.634G>T r.(?) p.(Asp212Tyr) Unknown - VUS g.69366634G>T g.70146784G>T IGBP1(NM_001551.2):c.634G>T (p.(Asp212Tyr)) - IGBP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.660A>C r.(?) p.(Glu220Asp) Unknown - likely benign g.69366660A>C - IGBP1(NM_001551.2):c.660A>C (p.E220D) - IGBP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.758+388_758+389del r.(=) p.(=) Maternal (inferred) - VUS g.69369078_69369079del g.70149228_70149229del - - IGBP1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.821A>G r.(?) p.(His274Arg) Unknown - likely benign g.69370122A>G g.70150272A>G IGBP1(NM_001551.2):c.821A>G (p.H274R) - IGBP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.872-7A>G r.(=) p.(=) Unknown - VUS g.69385676A>G g.70165826A>G IGBP1(NM_001551.2):c.872-7A>G (p.(=)) - IGBP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.994T>C r.(?) p.(Tyr332His) Unknown - VUS g.69385805T>C g.70165955T>C - - IGBP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1000A>G r.(?) p.(Asn334Asp) Unknown - VUS g.69385811A>G g.70165961A>G IGBP1(NM_001551.3):c.1000A>G (p.N334D) - IGBP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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