Variant #0000289487 (NC_000015.9:g.99454613G>A, IGF1R(NM_000875.3):c.1532G>A)

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.99454613G>A
DNA change (hg38) g.98911384G>A
Published as IGF1R(NM_000875.3):c.1532G>A (p.(Arg511Gln)), IGF1R(NM_000875.4):c.1532G>A (p.R511Q)
ISCN -
DB-ID IGF1R_000003 See all 3 reported entries
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) 0.0016 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.1532G>A r.(?) p.(Arg511Gln)