Variant #0000807127 (NC_000016.9:g.1841503G>A, IGFALS(NM_004970.2):c.916C>T)

Chromosome 16
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.1841503G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID NUBP2_000021
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) Retrieve
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IGFALS NM_004970.2 -?/. - c.916C>T r.(?) p.(Arg306Trp)
NUBP2 NM_012225.2 -?/. - c.*2788G>A r.(=) p.(=)