chr12:120994265:G>A Detail (hg38) (HNF1A)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr12:121,432,068-121,432,068 View the variant detail on this assembly version.
hg38	chr12:120,994,265-120,994,265

HGVS

HNF1A

Type	Transcript	Protein
RefSeq	NM_000545.6:c.815G>A	NP_000536.5:p.Arg272His
	NM_001306179.1:c.815G>A	NP_001293108.1:p.Arg272His
Ensemble	ENST00000257555.11:c.815G>A	ENST00000257555.11:p.Arg272His
	ENST00000400024.6:c.815G>A	ENST00000400024.6:p.Arg272His
	ENST00000541395.5:c.815G>A	ENST00000541395.5:p.Arg272His
	ENST00000544413.2:c.815G>A	ENST00000544413.2:p.Arg272His

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
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Links

HNF1A

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	COSM24933	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	1997-10-01	no assertion criteria provided	type 1 diabetes mellitus 20	germline	Detail
Pathogenic	2023-08-23	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2022-07-05	reviewed by expert panel	Monogenic diabetes	germline	Detail
Pathogenic Likely pathogenic	2019-03-09	criteria provided, multiple submitters, no conflicts	Maturity onset diabetes mellitus in young	germline unknown	Detail
Pathogenic	2022-08-25	criteria provided, single submitter	maturity-onset diabetes of the young type 3	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder)	NA	CLINVAR		Detail
0.051	Diabetes Mellitus, Non-Insulin-Dependent	A missense mutation of R272H (replacement of Arg by His in codon 272) in the DNA...	BeFree	9313763	Detail
0.374	Diabetes Mellitus, Non-Insulin-Dependent	A missense mutation of R272H (replacement of Arg by His in codon 272) in the DNA...	BeFree	9313763	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000545.8(HNF1A):c.815G>A (p.Arg272His) AND Type 1 diabetes mellitus 20	ClinVar	Detail
NM_000545.8(HNF1A):c.815G>A (p.Arg272His) AND not provided	ClinVar	Detail
NM_000545.8(HNF1A):c.815G>A (p.Arg272His) AND Monogenic diabetes	ClinVar	Detail
NM_000545.8(HNF1A):c.815G>A (p.Arg272His) AND Maturity onset diabetes mellitus in young	ClinVar	Detail
NM_000545.8(HNF1A):c.815G>A (p.Arg272His) AND Maturity-onset diabetes of the young type 3	ClinVar	Detail
NA	DisGeNET	Detail
A missense mutation of R272H (replacement of Arg by His in codon 272) in the DNA binding domain of H...	DisGeNET	Detail
A missense mutation of R272H (replacement of Arg by His in codon 272) in the DNA binding domain of H...	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: rs137853238 dbSNP
Genome: hg38
Position: chr12:120,994,265-120,994,265
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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