Variant #0000905189 (NC_000012.11:g.66357053_66357054del, NM_003483.4:c.311_312del (HMGA2))

Chromosome 12
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.66357053_66357054del
DNA change (hg38) -
Published as -
ISCN -
DB-ID HMGA2_000027
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner MobiDetails
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by MobiDetails
Date created 2022-11-30 12:03:01 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HMGA2 NM_003483.4 +?/. - c.311_312del r.(?) p.(Glu104ValfsTer112)


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