Variant #0000495040 (NC_000012.11:g.121426656C>T, HNF1A(NM_000545.5):c.347C>T)

Individual ID 00243062
Chromosome 12
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.121426656C>T
DNA change (hg38) g.120988853C>T
Published as -
ISCN -
DB-ID HNF1A_000253 See all 22 reported entries
Variant remarks -
Reference PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671.
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
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.347C>T r.(?) p.(Ala116Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000244173 DNA SEQ - - HNF1A 1 Kevin Colclough