Variant #0000557027 (NC_000016.9:g.1841590G>A, IGFALS(NM_004970.2):c.829C>T)

Chromosome 16
Allele Unknown
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.1841590G>A
DNA change (hg38) g.1791589G>A
Published as IGFALS(NM_001146006.1):c.943C>T (p.R315C)
ISCN -
DB-ID NUBP2_000007
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00012 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IGFALS NM_004970.2 ?/. - c.829C>T r.(?) p.(Arg277Cys)
NUBP2 NM_012225.2 ?/. - c.*2875G>A r.(=) p.(=)