Variant #0000624858 (NC_000016.9:g.1841830_1841838dup, IGFALS(NM_004970.2):c.583_591dup)

Individual ID 00269865
Chromosome 16
Allele Parent #2
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.1841830_1841838dup
DNA change (hg38) g.1791829_1791837dup
Published as Ser195_Arg197dup
ISCN -
DB-ID IGFALS_000008 See all 4 reported entries
Variant remarks -
Reference Bang Horm Res 72(Suppl 3):86 in PubMed: Fofanova-Gambetti 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 +/. - c.583_591dup r.(?) p.(Ser195_Arg197dup)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000271018 DNA SEQ - - IGFALS 2 Johan den Dunnen