Variant #0000128579 (NC_000016.9:g.1840930dup, IGFALS(NM_004970.2):c.1490dup)

Individual ID 00079722
Chromosome 16
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.1840930dup
DNA change (hg38) g.1790929dup
Published as -
ISCN -
DB-ID IGFALS_000004 See all 3 reported entries
Variant remarks -
Reference PubMed: van Duyvenvoorde 2008, ESPE 2007
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Hermine van Duyvenvoorde
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Hermine van Duyvenvoorde
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IGFALS NM_004970.2 +/. 2 c.1490dup r.(?) p.(Leu497Phefs*40)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000079796 DNA SEQ - - IGFALS 1 Hermine van Duyvenvoorde