Variant #0000494806 (NC_000012.11:g.(?_121416549)_(121440315_?)del, NM_000545.5:c.(?_-23)_(*1320_?)del (HNF1A))

Individual ID 00242836
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.(?_121416549)_(121440315_?)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID HNF1A_000172 See all 5 reported entries
Variant remarks -
Reference Ellard 2007. Diabetologia, 50:2313-2317.
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Kevin Colclough
Database submission license No license selected
Created by Kevin Colclough
Date created 2012-09-04 14:00:00 +02:00 (CEST)
Date last edited 2019-06-21 19:40:32 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HNF1A NM_000545.5 +/+ _1_10_ c.(?_-23)_(*1320_?)del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000243947 DNA MLPA - - HNF1A 1 Kevin Colclough


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