Variant #0000725400 (NC_000015.9:g.99440128C>T, IGF1R(NM_000875.3):c.1096C>T)

Chromosome 15
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.99440128C>T
DNA change (hg38) -
Published as IGF1R(NM_000875.4):c.1096C>T (p.R366W)
ISCN -
DB-ID IGF1R_000120
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 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     
IGF1R NM_000875.3 ?/. - c.1096C>T r.(?) p.(Arg366Trp)