Variant #0000624855 (NC_000016.9:g.1841592T>C, IGFALS(NM_004970.2):c.827A>G)

Individual ID 00269863
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.1841592T>C
DNA change (hg38) g.1791591T>C
Published as -
ISCN -
DB-ID IGFALS_000011 See all 3 reported entries
Variant remarks -
Reference Gallego-Gomez Horm Res 72(Suppl 3):90 in PubMed: Fofanova-Gambetti 2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 6.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-12-08 13:59:56 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IGFALS NM_004970.2 +/. - c.827A>G r.(?) p.(Asn276Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000271016 DNA SEQ - - IGFALS 2 Johan den Dunnen