Variant #0000490308 (NC_000012.11:g.121416663G>A, HNF1A(NM_000545.5):c.92G>A)

Individual ID 00241540
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.121416663G>A
DNA change (hg38) g.120978860G>A
Published as -
ISCN -
DB-ID HNF1A_000164 See all 11 reported entries
Variant remarks -
Reference M. Losekoot
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00075 View details
Owner Monique Losekoot
Database submission license No license selected
Created by Monique Losekoot
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HNF1A NM_000545.5 +/+ 1 c.92G>A r.(?) p.(Gly31Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000242651 DNA SEQ - - HNF1A 10 Monique Losekoot