chr12:120996562:C> 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	chr12:121,434,365-121,434,365
hg38	chr12:120,996,562-120,996,562

HGVS

HNF1A

Type	Transcript	Protein
RefSeq	NM_000545.6:c.1129delC	NP_000536.5:p.Leu377SerfsTer7
	NM_001306179.1:c.1129delC	NP_001293108.1:p.Leu377SerfsTer7
Ensemble	ENST00000257555.11:c.1129delC	ENST00000257555.11:p.Leu377SerfsTer7
	ENST00000400024.6:c.1129delC	ENST00000400024.6:p.Leu377SerfsTer7
	ENST00000541395.5:c.1129delC	ENST00000541395.5:p.Leu377SerfsTer7
	ENST00000544413.2:c.1129delC	ENST00000544413.2:p.Leu377SerfsTer7

Summary

MGeND

Clinical significance
Variant entry
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2011-08-18	criteria provided, single submitter	maturity-onset diabetes of the young type 3	germline	Detail
Pathogenic	2021-12-31	reviewed by expert panel	Monogenic diabetes	germline	Detail
Pathogenic	2020-12-10	criteria provided, single submitter	not provided	germline	Detail
Likely 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

Descrption	Source	Links
NM_000545.8(HNF1A):c.1129del (p.Leu377fs) AND Maturity-onset diabetes of the young type 3	ClinVar	Detail
NM_000545.8(HNF1A):c.1129del (p.Leu377fs) AND Monogenic diabetes	ClinVar	Detail
NM_000545.8(HNF1A):c.1129del (p.Leu377fs) AND not provided	ClinVar	Detail
NM_000545.8(HNF1A):c.1129del (p.Leu377fs) 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: rs193922576 dbSNP
Genome: hg38
Position: chr12:120,996,562-120,996,562
Variant Type: snv
Reference Allele: C
Alternative Allele: -

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