All variants in the IGFALS gene

A Growth Genetics Consortium gene variant database
Information The variants shown are described using the NM_004970.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

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     
+/. 2 c.401T>A r.(?) p.(Leu134Gln) - pathogenic (recessive) g.1842018A>T g.1792017A>T - - IGFALS_000007 - PubMed: David 2010 - - Germline - - - - - Johan den Dunnen
?/. - c.401T>A r.(?) p.(Leu134Gln) - VUS g.1842018A>T - IGFALS(NM_001146006.1):c.515T>A (p.(Leu172Gln)) - IGFALS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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