Variant #0000557019 (NC_000016.9:g.1837815G>A, IGFALS(NM_004970.2):c.*2786C>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.1837815G>A
DNA change (hg38) g.1787814G>A
Published as NUBP2(NM_012225.2):c.472G>A (p.(Val158Met))
ISCN -
DB-ID NUBP2_000002
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) 1.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IGFALS NM_004970.2 -?/. - c.*2786C>T r.(=) p.(=)
NUBP2 NM_012225.2 -?/. - c.472G>A r.(?) p.(Val158Met)