Variant #0000495055 (NC_000012.11:g.121426684_121426686dup, HNF1A(NM_000545.5):c.375_377dup)

Individual ID 00243077
Chromosome 12
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.121426684_121426686dup
DNA change (hg38) g.120988881_120988883dup
Published as -
ISCN -
DB-ID HNF1A_000255 See all 8 reported entries
Variant remarks -
Reference K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Kevin Colclough
Database submission license No license selected
Created by Kevin Colclough
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HNF1A NM_000545.5 +?/+? 2 c.375_377dup r.(?) p.(Gln125dup)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000244188 DNA SEQ - - HNF1A 1 Kevin Colclough