Unique variants in the IGF1 gene

A Growth Genetics Consortium gene variant database
Information The variants shown are described using the transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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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 _1_6_ c.0 r.0 p.0 - pathogenic g.(102200000_102613657)_(102875825_102900000)del - chr12:g.102613657–102875825del - IGF1_000013 - PubMed: Baley 2014, Journal: Baley 2014 - - Germline yes - - - - Johan den Dunnen
-/. 1 - c.64-23C>A r.(=) p.(=) - benign g.102869600G>T g.102475822G>T IGF1(NM_000618.4):c.64-23C>A - IGF1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 3 c.207G>A r.(?), r.207g>a p.(Arg69=), p.Arg69= - likely benign g.102869434C>T g.102475656C>T IGF1(NM_000618.3):c.207G>A (p.(=)) - IGF1_000011 VKGL data sharing initiative Nederland PubMed: Fuqua 2012, Journal: Fuqua 2012 - - CLASSIFICATION record, Germline yes - - - - Johan den Dunnen, VKGL-NL_Leiden
+/. 1 3i_5i c.(220+1_221-1)_(402+1_403-1)del r.221_402del p.Asn74Argfs*9 - pathogenic g.(102796345_102811732)_(102813469_102869420)del - del ex04 and 05 - IGF1_000001 NM_001111283.1:c.(220+1_221-1)_(451+1_452-1)del PubMed: Woods 1996, OMIM:var0001 - - Germline yes - - - - Hermine van Duyvenvoorde
+/. 1 4 c.243_246dup r.(?) p.(Ser83Glnfs*13) - pathogenic g.102813444_102813447dup g.102419666_102419669dup 243_246dupCAGC - IGF1_000005 - PubMed: van Duyvenvoorde 2010, Journal: van Duyvenvoorde 2010 - - Germline yes - - - - Hermine van Duyvenvoorde
?/. 1 4 c.251G>A r.(?) p.(Arg84Gln) - VUS g.102813438C>T g.102419660C>T R36Q - IGF1_000004 - - - - Germline yes - - - - Hermine van Duyvenvoorde
+/. 4 4 c.274G>A r.(?), r.274a>g p.(Val92Met), p.Val92Met - NA, pathogenic g.102813415C>T g.102419637C>T V44M - IGF1_000003 cDNA expression cloning showed 90x reduced affinity for IGF1R, variant not in 174 control chromosomes PubMed: Walenkamp 2005, Journal: Walenkamp 2005, PubMed: Walenkamp 2005, OMIM:var0003 - rs121912430 Germline, In vitro (cloned) -, yes - - - - Johan den Dunnen, Hermine van Duyvenvoorde
+/. 1 - c.285C>A r.(?) p.(Cys95Ter) - pathogenic g.102813404G>T g.102419626G>T IGF1(NM_001111283.2):c.285C>A (p.C95*) - IGF1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 4 c.292C>T r.(?) p.(Arg98Trp) - pathogenic g.102813397G>A g.102419619G>A - - IGF1_000010 - PubMed: Shaheen 2014, Journal: Shaheen 2014 - - Germline - - - - - Fowzan Alkuraya
?/. 1 - c.300T>G r.(?) p.(Cys100Trp) - VUS g.102813389A>C g.102419611A>C IGF1(NM_001111283.2):c.300T>G (p.C100W) - IGF1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.340C>G r.(?) p.(Pro114Ala) - likely benign g.102813349G>C g.102419571G>C IGF1(NM_000618.3):c.340C>G (p.(Pro114Ala)) - IGF1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.352G>A r.(?) p.(Ala118Thr) - VUS g.102813337C>T g.102419559C>T - - IGF1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 2 - c.356G>A r.(?) p.(Arg119His) - likely benign, VUS g.102813333C>T g.102419555C>T IGF1(NM_000618.3):c.356G>A (p.(Arg119His)), IGF1(NM_001111283.3):c.356G>A (p.R119H) - IGF1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen
+/. 1 4i c.402+1G>T - p.Asn74Argfs*9 - pathogenic g.102813286C>A g.102419508C>A - - IGF1_000012 - PubMed: Fuqua 2012, Journal: Fuqua 2012 - - Germline yes - - - - Johan den Dunnen
+/. 1 - c.402+1505G>C r.(=) p.(=) - pathogenic g.102811782C>G - IGF1(NM_001111283.2):c.403-1G>C - IGF1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 6 c.*263T>A r.423_*6640delins[chr17:g.137559893_137560131] p.Ser142fs - pathogenic g.102796022A>T g.102402244A>T - - IGF1_000002 1 more item PubMed: Bonapace 2003, OMIM:var0002 - - Germline yes - - - - Hermine van Duyvenvoorde
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