Variant #0000129159 (NC_000015.9:g.(98500001_99203445)_(101798740_qter)del, IGF1R(NM_000875.3):c.(?_95-1)_(*1_?)del)

Individual ID 00080117
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.(98500001_99203445)_(101798740_qter)del
DNA change (hg38) -
Published as -
ISCN arr[hg19] 15q26.3(99,203,445-101,798,740 )x1 dn
DB-ID IGF1R_000027
Variant remarks deletion affecting IGF1R
Reference PubMed: Bruce 2009, for EUCID-SRS consortium
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation normal methylation H19/IGF2:IG-DMR, KCNQ1OT1:TSS-DMR
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Zeynep Tümer
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IGF1R NM_000875.3 ?/. - c.(?_95-1)_(*1_?)del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000080210 DNA arrayCNV - - - 1 Zeynep Tümer