Variant #0000905239 (NC_000015.9:g.99452067dup, IGF1R(NM_000875.3):c.1401dup)

Chromosome 15
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.99452067dup
DNA change (hg38) -
Published as -
ISCN -
DB-ID IGF1R_000218
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner MobiDetails
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by MobiDetails
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IGF1R NM_000875.3 +?/. - c.1401dup r.(?) p.(Thr468AspfsTer2)