Variant #0000128583 (NC_000016.9:g.1842018A>T, IGFALS(NM_004970.2):c.401T>A)

Individual ID 00079726
Chromosome 16
Allele Parent #1
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.1842018A>T
DNA change (hg38) g.1792017A>T
Published as -
ISCN -
DB-ID IGFALS_000007 See all 2 reported entries
Variant remarks -
Reference PubMed: David 2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IGFALS NM_004970.2 +/. 2 c.401T>A r.(?) p.(Leu134Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000079800 DNA SEQ - - IGFALS 2 Johan den Dunnen