Variant #0000128710 (NC_000011.9:g.2164672G>A, IGF2(NM_000612.4):c.-5220C>T)

Individual ID 00079853
Chromosome 11
Allele Parent #1
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.2164672G>A
DNA change (hg38) g.2143442G>A
Published as Y13633:2722C/T
ISCN -
DB-ID IGF2_000007
Variant remarks incl. 146 homozygous cases
Reference PubMed: Gaunt 2001
ClinVar ID -
dbSNP ID rs17885652
Origin Germline
Segregation -
Frequency 1142/4074
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IGF2 NM_000612.4 -?/. 00-2i c.-5220C>T r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000079927 DNA DHPLC;SEQ - - IGF2 1 Johan den Dunnen