Full data view for gene IGF1

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

44 entries on 1 page. Showing entries 1 - 44.
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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     
+/. _1_6_ c.0 r.0 p.0 Paternal (confirmed) - pathogenic g.(102200000_102613657)_(102875825_102900000)del - chr12:g.102613657–102875825del - IGF1_000013 - PubMed: Baley 2014, Journal: Baley 2014 - - Germline yes - - - - DNA arraySNP - - stature, short 24243634- PubMed: Baley 2014, Journal: Baley 2014 2-generation family, 1 affected, father not available M no United States Irish - - - - 1 Johan den Dunnen
-?/. - c.45C>G r.(?) p.(Cys15Trp) Unknown - likely benign g.102874115G>C g.102480337G>C IGF1(NM_000618.3):c.45C>G (p.(Cys15Trp)) - IGF1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.64-23C>A r.(=) p.(=) Unknown - benign g.102869600G>T g.102475822G>T IGF1(NM_000618.4):c.64-23C>A - IGF1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.141G>A r.(?) p.(Thr47=) Unknown - likely benign g.102869500C>T - IGF1(NM_000618.3):c.141G>A (p.(Thr47=)) - IGF1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.156G>A r.(?) p.(Thr52=) Unknown - likely benign g.102869485C>T - IGF1(NM_000618.3):c.156G>A (p.(Thr52=)) - IGF1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.206G>T r.(?) p.(Arg69Met) Unknown - VUS g.102869435C>A - - - IGF1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 3 c.207G>A r.207g>a p.Arg69= Maternal (confirmed) - likely benign g.102869434C>T g.102475656C>T - - IGF1_000011 - PubMed: Fuqua 2012, Journal: Fuqua 2012 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - stature, short 22832530-Fam PubMed: Fuqua 2012, Journal: Fuqua 2012 5-generation family, 5 affecteds (2F, 3M) F;M no United States - - - - - 5 Johan den Dunnen
-?/. - c.207G>A r.(?) p.(Arg69=) Unknown - likely benign g.102869434C>T g.102475656C>T IGF1(NM_000618.3):c.207G>A (p.(Arg69=)), IGF1(NM_001111283.3):c.207G>A (p.R69=) - IGF1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.207G>A r.(?) p.(Arg69=) Unknown - likely benign g.102869434C>T - IGF1(NM_000618.3):c.207G>A (p.(Arg69=)), IGF1(NM_001111283.3):c.207G>A (p.R69=) - IGF1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.220+11C>G r.(=) p.(=) Unknown - likely benign g.102869410G>C - IGF1(NM_000618.3):c.220+11C>G (p.(=)) - IGF1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i_5i c.(220+1_221-1)_(402+1_403-1)del r.221_402del p.Asn74Argfs*9 Both (homozygous) - 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 - - - - RNA, DNA RT-PCR, SEQ - - Growth retardation with deafness and mental retardation due to IGF1 deficiency 08857020 PubMed: Woods 1996, Journal: Woods 1996, Woods 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United Kingdom (Great Britain) - - - - - 1 Hermine van Duyvenvoorde
+/. 4 c.243_246dup r.(?) p.(Ser83Glnfs*13) Parent #1 - pathogenic g.102813444_102813447dup g.102419666_102419669dup 243_246dupCAGC - IGF1_000005 - PubMed: van Duyvenvoorde 2010, Journal: van Duyvenvoorde 2010 - - Germline yes - - - - DNA SEQ - - stature, short 20668042-Fam PubMed: van Duyvenvoorde 2010, Journal: van Duyvenvoorde 2010 3-generation family, 2 children, mother and maternal grandfather heterozygous carriers F;M no Netherlands - - - - - 4 Hermine van Duyvenvoorde
?/. 4 c.251G>A r.(?) p.(Arg84Gln) Parent #1 - VUS g.102813438C>T g.102419660C>T R36Q - IGF1_000004 - - - - Germline yes - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Hermine van Duyvenvoorde
+/. - c.251G>A r.(?) p.(Arg84Gln) Unknown - pathogenic g.102813438C>T - IGF1(NM_000618.3):c.251G>A (p.(Arg84Gln)) - IGF1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.274G>A r.274a>g p.Val92Met Both (homozygous) - pathogenic g.102813415C>T g.102419637C>T - - IGF1_000003 variant not in 174 control chromosomes PubMed: Walenkamp 2005, OMIM:var0003 - rs121912430 Germline yes - - - - RNA, DNA RT-PCR, SEQ - - Growth retardation with deafness and mental retardation due to IGF1 deficiency 15769976-FamPatIV8 PubMed: Walenkamp 2005, Journal: Walenkamp 2005 6-generation family, affected brothers, 9 heterozygous carrier parents/relatives {FILE15769976fam.ppt:pedigree}, {FILE15769976patRV.jpg:the patient}, {FILE15769976tab.jpg:protein levels} M yes Netherlands Netherlands - - - - 11 Hermine van Duyvenvoorde
+/. 4 c.274G>A r.(?) p.(Val92Met) Both (homozygous) - pathogenic g.102813415C>T g.102419637C>T V44M - IGF1_000003 - PubMed: Walenkamp 2005, Journal: Walenkamp 2005 - rs121912430 Germline yes - - - - DNA SEQ - - Growth retardation with deafness and mental retardation due to IGF1 deficiency 15769976-FamPatIV13 PubMed: Walenkamp 2005, Journal: Walenkamp 2005 - M yes Netherlands - - - - - 1 Hermine van Duyvenvoorde
+/. 4 c.274G>A r.(?) p.(Val92Met) Parent #1 - pathogenic g.102813415C>T g.102419637C>T V44M - IGF1_000003 - PubMed: Walenkamp 2005, Journal: Walenkamp 2005 - rs121912430 Germline yes - - - - DNA SEQ - - ? 15769976-FamCar PubMed: Walenkamp 2005, Journal: Walenkamp 2005 9 heterozygous carriers F;M yes Netherlands - - - - - 9 Johan den Dunnen
+/. 4 c.274G>A r.(?) p.Val92Met Unknown - NA g.102813415C>T g.102419637C>T V44M - IGF1_000003 cDNA expression cloning showed 90x reduced affinity for IGF1R - - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.285C>A r.(?) p.(Cys95Ter) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.285C>T r.(?) p.(Cys95=) Unknown - likely benign g.102813404G>A g.102419626G>A IGF1(NM_000618.3):c.285C>T (p.(Cys95=)) - IGF1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 4 c.292C>T r.(?) p.(Arg98Trp) Both (homozygous) - pathogenic g.102813397G>A g.102419619G>A - - IGF1_000010 - PubMed: Shaheen 2014, Journal: Shaheen 2014 - - Germline - - - - - DNA SEQ-NG - - DWFP - PubMed: Shaheen 2014, Journal: Shaheen 2014 4-generation family, 2 affecteds, unaffected heterozygous carrier parents M yes Saudi Arabia Arab - - - - 2 Fowzan Alkuraya
?/. - c.293G>A r.(?) p.(Arg98Gln) Unknown - VUS g.102813396C>T - - - IGF1_000037 - - - rs1316717107 Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.293G>A r.(?) p.(Arg98Gln) Unknown - VUS g.102813396C>T - - - IGF1_000037 - - - rs1316717107 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.297C>T r.(?) p.(Ser99=) Unknown - likely benign g.102813392G>A - IGF1(NM_000618.3):c.297C>T (p.(Ser99=)) - IGF1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.300T>G r.(?) p.(Cys100Trp) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.326del r.(?) p.(Cys109Serfs*30) Unknown - likely pathogenic g.102813363del - IGF1(NM_000618.3):c.326del (p.(Cys109Serfs*30)) - IGF1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.340C>G r.(?) p.(Pro114Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.343G>A r.(?) p.(Ala115Thr) Unknown - likely benign g.102813346C>T - IGF1(NM_000618.3):c.343G>A (p.(Ala115Thr)) - IGF1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.352G>A r.(?) p.(Ala118Thr) Unknown - VUS g.102813337C>T g.102419559C>T IGF1(NM_000618.3):c.352G>A (p.(Ala118Thr)), IGF1(NM_000618.5):c.352G>A (p.A118T) - IGF1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.352G>A r.(?) p.(Ala118Thr) Unknown - likely benign g.102813337C>T g.102419559C>T IGF1(NM_000618.3):c.352G>A (p.(Ala118Thr)), IGF1(NM_000618.5):c.352G>A (p.A118T) - IGF1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.352G>A r.(?) p.(Ala118Thr) Unknown - VUS g.102813337C>T - IGF1(NM_000618.3):c.352G>A (p.(Ala118Thr)), IGF1(NM_000618.5):c.352G>A (p.A118T) - IGF1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.356G>A r.(?) p.(Arg119His) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.356G>A r.(?) p.(Arg119His) Unknown - likely benign 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.365G>A r.(?) p.(Arg122His) Unknown - VUS g.102813324C>T - IGF1(NM_000618.3):c.365G>A (p.(Arg122His)) - IGF1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4i c.402+1G>T - p.Asn74Argfs*9 Maternal (confirmed) - pathogenic g.102813286C>A g.102419508C>A - - IGF1_000012 - PubMed: Fuqua 2012, Journal: Fuqua 2012 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - stature, short 22832530-Fam PubMed: Fuqua 2012, Journal: Fuqua 2012 5-generation family, 5 affecteds (2F, 3M) F;M no United States - - - - - 5 Johan den Dunnen
+/. - c.402+1505G>C r.(=) p.(=) Unknown - pathogenic g.102811782C>G - IGF1(NM_001111283.2):c.403-1G>C - IGF1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.402+1534C>T r.(=) p.(=) Unknown - likely benign g.102811753G>A - IGF1(NM_000618.3):c.402+1534C>T (p.(=)) - IGF1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.402+1535G>A r.(=) p.(=) Unknown - likely benign g.102811752C>T - IGF1(NM_000618.3):c.402+1535G>A (p.(=)) - IGF1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.402+1569_402+1570del r.(=) p.(=) Unknown - likely benign g.102811720_102811721del - IGF1(NM_000618.3):c.402+1569_402+1570del - IGF1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.402+1663C>A r.(=) p.(=) Unknown - likely benign g.102811624G>T g.102417846G>T IGF1(NM_000618.3):c.402+1663C>A (p.(=)) - IGF1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.403-19T>C r.(=) p.(=) Unknown - likely benign g.102796363A>G - IGF1(NM_000618.3):c.403-19T>C (p.(=)) - IGF1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.403-9T>C r.(=) p.(=) Unknown - likely benign g.102796353A>G g.102402575A>G IGF1(NM_000618.3):c.403-9T>C (p.(=)) - IGF1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.*263T>A r.423_*6640delins[chr17:g.137559893_137560131] p.Ser142fs Both (homozygous) - pathogenic g.102796022A>T g.102402244A>T - - IGF1_000002 mRNA poly-A addition affected, altered splicing; variant was found in various healthy controls in a Brasilian cohort PubMed: Bonapace 2003, OMIM:var0002 - - Germline yes - - - - RNA, DNA SSCA, RT-PCR, SEQ - - Growth retardation with deafness and mental retardation due to IGF1 deficiency 14684690-Pat PubMed: Bonapace 2003, Concolino 2009 2-generation family, 1 affected, unaffected heterozygous carrier parent M - Italy Italy - - - - 1 Hermine van Duyvenvoorde
-?/. - c.*263T>A r.(=) p.(=) Unknown - likely benign g.102796022A>T - IGF1(NM_001111283.3):c.*297T>A - IGF1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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