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 (#0000154)
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 Unknown
Concluded pathogenicity Unknown
Exon 05
DNA change c.549C>A   (View in UCSC Genome Browser, Ensembl)
DNA_pub -
RNA r.(?)
Protein p.(=)
Origin -
Remarks -
DB-ID IGF2_00017
Reference dbSNP
Technique SEQ
Template DNA
Freq. 0.00-0.01
Re-site -

19 entries 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 00-1 c.-8695G>A - r.(?) p.(=) - - IGF2_00002 dbSNP SEQ DNA 0.00-0.05 -
?/? Parent #1 00-1 c.-8690A>G - r.(?) p.(=) - - IGF2_00001 dbSNP SEQ DNA 0.00-0.12 -
?/? Parent #1 00-1i c.-8060T>C - r.(?) p.(=) - - IGF2_00005 dbSNP SEQ DNA 0.23-0.58 -
?/? Parent #1 00-1i c.-7691T>C - r.(?) p.(=) - - IGF2_00004 dbSNP SEQ DNA 0.17-0.57 -
?/? Parent #1 00-1i c.-7027T>C - r.(?) p.(=) - - IGF2_00003 dbSNP SEQ DNA 0.25-0.53 -
?/? Parent #1 00-2 c.-6931T>C - r.(?) p.(=) - - IGF2_00006 dbSNP SEQ DNA 0.09-0.63 AluI-
?/? Parent #1 00-2i c.-5460A>C - r.(?) p.(=) - - IGF2_00008 dbSNP SEQ DNA 0.09-0.66 -
?/? Parent #1 00-2i c.-5220C>T - r.(?) p.(=) - - IGF2_00007 dbSNP SEQ DNA 0.01-0.43 -
?/? Parent #1 02i c.163-1420A>G - r.(?) p.(=) - - IGF2_00009 dbSNP SEQ DNA 0.54-0.85 -
?/? Parent #1 02i c.163-285G>C - r.(?) p.(=) - - IGF2_00010 dbSNP SEQ DNA 0.22-0.74 -
?/? Parent #1 04 c.402C>G - r.(?) p.(=) - - IGF2_00011 dbSNP SEQ DNA 0.00-0.04 -
?/? Parent #1 05 c.549C>A - r.(?) p.(=) - - IGF2_00017 dbSNP SEQ DNA 0.00-0.01 -
?/? Parent #1 05 c.686C>A - r.(?) p.(Pro229Gln) - - IGF2_00018 dbSNP SEQ DNA 0.00 -
?/? Parent #1 05 c.708G>A - r.(?) p.(Lys236Lys) - - IGF2_00019 dbSNP SEQ DNA 0.00 -
?/? Parent #1 05 c.*14A>G - r.(?) p.(=) - - IGF2_00020 dbSNP SEQ DNA 0.00-0.02 -
?/? Parent #1 05 c.*29C>T - r.(?) p.(=) - - IGF2_00014 dbSNP SEQ DNA 0.00-0.16 -
?/? Parent #1 05 c.*583A>G - r.(?) p.(=) - - IGF2_00016 dbSNP SEQ DNA 0.58-0.89 -
?/? Parent #1 05 c.*1676G>C - r.(?) p.(=) - - IGF2_00012 dbSNP SEQ DNA 0.78 -
?/? Parent #1 05 c.*3520A>G - r.(?) p.(=) - - IGF2_00015 dbSNP SEQ DNA 0.07 -

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