Variant #0000495000 (NC_000012.11:g.121416600C>T, HNF1A(NM_000545.5):c.29C>T)

Individual ID 00243022
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.121416600C>T
DNA change (hg38) g.120978797C>T
Published as -
ISCN -
DB-ID HNF1A_000242
Variant remarks -
Reference PubMed: Bellanne-Chantelot 2008; PubMed: Ellard & Colclough 2006.
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Kevin Colclough
Database submission license No license selected
Created by Kevin Colclough
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HNF1A NM_000545.5 +?/+? 1 c.29C>T r.(?) p.(Thr10Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000244133 DNA SEQ - - HNF1A 1 Kevin Colclough