Variant #0000495044 (NC_000012.11:g.121426656C>T, HNF1A(NM_000545.5):c.347C>T)
Individual ID |
00243066 |
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 |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0 View details |
Owner |
Kevin Colclough |
Database submission license |
No license selected |
Created by |
Kevin Colclough |

Variant on transcripts
Screenings
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