Variant #0000603162 (NC_000012.11:g.121416342_121416471del, HNF1A(NM_000545.5):c.-230_-101del)

Individual ID 00269289
Chromosome 12
Allele Paternal (confirmed)
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.121416342_121416471del
DNA change (hg38) g.120978539_120978668del
Published as -
ISCN -
DB-ID HNF1A_000418
Variant remarks Deletes the minimal promoter region of HNF1A
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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 +?/+? Promoter c.-230_-101del r.? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000270421 DNA SEQ-NG-I Peripheral blood gene panel (https://www.exeterlaboratory.com/genetics/hyperinsulinism/) ABCC8, GCK, GLUD1, HADH, HNF1A, HNF4A, KCNJ11 1 Kevin Colclough