Variant #0000128580 (NC_000016.9:g.1841109_1841117dup, IGFALS(NM_004970.2):c.1308_1316dup)

Individual ID 00079723
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.1841109_1841117dup
DNA change (hg38) g.1791108_1791116dup
Published as 1308_1316dupGCTGGAGCT
ISCN -
DB-ID IGFALS_000002
Variant remarks -
Reference PubMed: Fofanova-Gambetti 2009, Ref: Dr S. Kirsch (Toronto, Canada)
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Vivian Hwa
Database submission license No license selected
Created by Vivian Hwa
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IGFALS NM_004970.2 +/. 2 c.1308_1316dup r.(?) p.(Leu437_Leu439dup)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000079797 DNA SEQ - - IGFALS 1 Vivian Hwa