Variant #0000128809 (NC_000016.9:g.1840853C>T, IGFALS(NM_004970.2):c.1566G>A)

Chromosome 16
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.1840853C>T
DNA change (hg38) g.1790852C>T
Published as -
ISCN -
DB-ID IGFALS_000016
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs2230053
Origin Germline
Segregation -
Frequency 0.04-0.08
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.01798 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 2008-09-12 18:44:29 +02:00 (CEST)
Date last edited 2008-09-12 18:45:51 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IGFALS NM_004970.2 ?/. 2 c.1566G>A r.(?) p.(=)