Variant #0000725506 (NC_000016.9:g.1840903C>T, IGFALS(NM_004970.2):c.1516G>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.1840903C>T
DNA change (hg38) -
Published as IGFALS(NM_001146006.1):c.1630G>A (p.(Gly544Arg))
ISCN -
DB-ID NUBP2_000014
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) 0.00096 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2021-02-08 18:36:18 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IGFALS NM_004970.2 ?/. - c.1516G>A r.(?) p.(Gly506Arg)
NUBP2 NM_012225.2 ?/. - c.*2188C>T r.(=) p.(=)