This database has been established by the Growth Consortium. The variants we have collected can be visualised without registration, just follow the links on these pages (for an explanation regarding all possibilities see Documentation). Note that the database contains much more information (esp. regarding the phenotype) then displayed. Part of this non-public data can be queried, retrieving the number of records fulfilling your query (see Search through hidden entries and Documentation). To get actual access to the non-public data you have to contact the curator(s).
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LOVD - Variant listings for IGF2

About this overview [Show]

Patient data (#0000167)
Reference -
Syndrome -
Neurological -
Clinical -
Skeletal dysplasia -
Dysmorphism/Face -
Dysmorphism/Other -
Phenotype_add. -
Remarks -
Origin/Geographic ?
Protein/GH_stim1 -
Protein/GH_stim2 -
Protein/GHBP -
Protein/IGF1 -
Protein/IGFBP3 -
Protein/ALS -
Protein/Prolactin -
Protein/WB -
#Reported 1

Variant data
Allele Parent #1
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 00-1i
DNA change c.-7027T>C   (View in UCSC Genome Browser, Ensembl)
DNA_pub Y13633:1156T/C
RNA r.(?)
Protein p.(=)
Origin -
Remarks C-allele associated with body mass index (P=0.017, n=1567); incl. 352 homozygous cases
DB-ID IGF2_00003
Reference Gaunt 2001, (OMIM 0002)
Technique SSCA, SEQ
Template DNA
Freq. 1516/3134
Re-site -

1 entry in IGF2

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
DNA_pub Descending
Ascending
RNA Descending
Ascending
Protein Descending
Ascending
Origin Descending
Ascending
Remarks Descending
Ascending
DB-ID Descending
Ascending
Reference Descending
Ascending
Technique Descending
Ascending
Template Descending
Ascending
Freq. Descending
Ascending
Re-site Descending
Ascending
+?/? Parent #1 00-1i c.-7027T>C Y13633:1156T/C r.(?) p.(=) - C-allele associated with body mass index (P=0.017, n=1567); incl. 352 homozygous cases IGF2_00003 Gaunt 2001, (OMIM 0002) SSCA, SEQ DNA 1516/3134 -