chr12:120999358:G>C Detail (hg38) (HNF1A)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr12:121,437,161-121,437,161 View the variant detail on this assembly version.
hg38	chr12:120,999,358-120,999,358

HGVS

HNF1A

Type	Transcript	Protein
RefSeq	NM_000545.6:c.1592G>C	NP_000536.5:p.Ser531Thr
	NM_001306179.1:c.1592G>C	NP_001293108.1:p.Ser531Thr
Ensemble	ENST00000257555.11:c.1592G>C	ENST00000257555.11:p.Ser531Thr
	ENST00000541395.5:c.1592G>C	ENST00000541395.5:p.Ser531Thr
	ENST00000544413.2:c.1592G>C	ENST00000544413.2:p.Ser531Thr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
Show details

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
Uncertain significance	2017-04-27	criteria provided, single submitter	maturity-onset diabetes of the young type 3	germline	Detail
Uncertain significance	2021-12-31	reviewed by expert panel	Monogenic diabetes	germline	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.1592G>C (p.Ser531Thr) AND Maturity-onset diabetes of the young type 3	ClinVar	Detail
NM_000545.8(HNF1A):c.1592G>C (p.Ser531Thr) AND Monogenic diabetes	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: rs137853246 dbSNP
Genome: hg38
Position: chr12:120,999,358-120,999,358
Variant Type: snv
Reference Allele: G
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8622
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 120856
Allele Counts in All Race (ExAC): 5
Heterozygous Counts in All Race (ExAC): 5
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 4.13715496127623E-5

Genome browser