Variant #0000324443 (NC_000016.9:g.1840893C>T, IGFALS(NM_004970.2):c.1526G>A)

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.1840893C>T
DNA change (hg38) g.1790892C>T
Published as IGFALS(NM_001146006.1):c.1640G>A (p.(Arg547His))
ISCN -
DB-ID IGFALS_000031
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) 0.00108 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IGFALS NM_004970.2 ?/. - c.1526G>A r.(?) p.(Arg509His)
NUBP2 NM_012225.2 ?/. - c.*2178C>T r.(=) p.(=)