Variant #0000355074 (NC_000012.11:g.66217407_66224664del, NC_000012.11(NM_003483.4):c.-1644_198+2797del (HMGA2))

Individual ID 00154495
Chromosome 12
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.66217407_66224664del
DNA change (hg38) g.65823627_65830884del
Published as -
ISCN -
DB-ID HMGA2_000008
Variant remarks DNA breakpoints were determined by breakpoint PCR
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Matias Wagner
Database submission license No license selected
Created by Matias Wagner
Date created 2018-02-27 15:01:43 +01:00 (CET)
Date last edited 2018-02-27 21:36:54 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HMGA2 NM_003483.4 +/. _1_2i c.-1644_198+2797del r.0? p.0?
RPSAP52 NR_026825.2 +/. _1_1i n.-3910_132+3216del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000155354 DNA SEQ-NG - - HMGA2 1 Matias Wagner


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