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.

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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.730C>T r.(?) p.(Leu244Phe) - pathogenic (recessive) g.1841689G>A g.1791688G>A - - IGFALS_000010 - PubMed: Fofanova-Gambetti 2009, Ref: Dr C. Pihoker (Seattle, WA) - - Germline - - - - - Vivian Hwa
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