chr12:121426700:C>T Detail (hg19) (HNF1A)

Information

Genome

Assembly Position
hg19 chr12:121,426,700-121,426,700
hg38 chr12:120,988,897-120,988,897 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000545.6:c.391C>T NP_000536.5:p.Arg131Trp
NM_001306179.1:c.391C>T NP_001293108.1:p.Arg131Trp
Ensemble ENST00000400024.6:c.391C>T ENST00000400024.6:p.Arg131Trp
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 142410 OMIM
HGNC 11621 HGNC
Ensembl ENSG00000135100 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM24907 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000137)
Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-08-02 criteria provided, single submitter maturity-onset diabetes of the young type 3 germline Detail
Pathogenic 2023-12-25 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2021-08-18 reviewed by expert panel Monogenic diabetes germline Detail
Pathogenic criteria provided, single submitter Maturity onset diabetes mellitus in young unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.445 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000545.8(HNF1A):c.391C>T (p.Arg131Trp) AND Maturity-onset diabetes of the young type 3 ClinVar Detail
NM_000545.8(HNF1A):c.391C>T (p.Arg131Trp) AND not provided ClinVar Detail
NM_000545.8(HNF1A):c.391C>T (p.Arg131Trp) AND Monogenic diabetes ClinVar Detail
NM_000545.8(HNF1A):c.391C>T (p.Arg131Trp) AND Maturity onset diabetes mellitus in young ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs137853244 dbSNP
Genome
hg19
Position
chr12:121,426,700-121,426,700
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser