Unique variants in the IGBP1 gene

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

18 entries on 1 page. Showing entries 1 - 18.
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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     
-?/. 1 - c.62A>G r.(?) p.(Gln21Arg) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.111A>G r.(?) p.(Ile37Met) - likely benign g.69353908A>G - IGBP1(NM_001551.2):c.111A>G (p.I37M) - IGBP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.121_123del r.(?) p.(Lys41del) - 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 - - - - - VKGL-NL_Groningen
?/. 1 - c.214G>C r.(?) p.(Ala72Pro) - VUS g.69354398G>C g.70134548G>C - - IGBP1_000007 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.235C>T r.(?) p.(Leu79Phe) - 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 - - - - - VKGL-NL_Rotterdam
-/. 1 - c.317G>A r.(?) p.(Arg106Gln) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.439A>C r.(?) p.(Ser147Arg) - 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 - - - - - VKGL-NL_Leiden
?/. 1 - c.451A>C r.(?) p.(Met151Leu) - 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 - - - - - VKGL-NL_Groningen
-?/. 2 - c.536T>C r.(?) p.(Val179Ala) - 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 2 - c.597G>A r.(=), r.(?) p.(=), p.(Arg199=) - likely benign g.69366597G>A g.70146747G>A IGBP1(NM_001551.2):c.597G>A (p.R199=), R199R - IGBP1_000008 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Rotterdam
-?/., ?/. 2 - c.608T>C r.(?) p.(Ile203Thr) - likely benign, VUS g.69366608T>C g.70146758T>C IGBP1(NM_001551.2):c.608T>C (p.I203T) - IGBP1_000009 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Rotterdam
?/. 1 - c.634G>T r.(?) p.(Asp212Tyr) - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.660A>C r.(?) p.(Glu220Asp) - likely benign g.69366660A>C - IGBP1(NM_001551.2):c.660A>C (p.E220D) - IGBP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.758+388_758+389del r.(=) p.(=) - VUS g.69369078_69369079del g.70149228_70149229del - - IGBP1_000001 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.821A>G r.(?) p.(His274Arg) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.872-7A>G r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden
?/. 1 - c.994T>C r.(?) p.(Tyr332His) - VUS g.69385805T>C g.70165955T>C - - IGBP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1000A>G r.(?) p.(Asn334Asp) - 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 - - - - - VKGL-NL_Groningen
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