Variant #0000805062 (NC_000011.9:g.2186951C>T, INS(NM_000207.2):c.-4571G>A)

Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.2186951C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID IGF2_000071
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) 2.0E-5 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
INS NM_000207.2 +/. - c.-4571G>A - r.(?) p.(=)
TH NM_000360.3 +/. - c.1147G>A - r.(?) p.(Gly383Arg)
IGF2 NM_000612.4 +/. - c.-27499G>A - r.(?) p.(=)
INS-IGF2 NM_001042376.2 +/. - c.-4571G>A - r.(?) p.(=)
TH NM_199292.2 +/. - c.1240G>A - r.(?) p.(Gly414Arg)