Variant #0000985110 (NC_000012.11:g.66221807_66221810delinsCT, NM_003483.4:c.138_141delinsCT (HMGA2))

Individual ID 00449692
Chromosome 12
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.66221807_66221810delinsCT
DNA change (hg38) g.65828027_65828030delinsCT
Published as -
ISCN -
DB-ID HMGA2_000032
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Kaori Yamoto
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Kaori Yamoto
Date created 2024-05-01 09:09:23 +02:00 (CEST)
Date last edited 2024-05-03 12:28:22 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HMGA2 NM_003483.4 +/. - c.138_141delinsCT r.(?) p.(Lys46Asnfs*16)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000451283 DNA SEQ-NG - - - 1 Kaori Yamoto


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.