chr12:121435342:C>T Detail (hg19) (HNF1A)

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Information

Genome

Assembly	Position
hg19	chr12:121,435,342-121,435,342
hg38	chr12:120,997,539-120,997,539 View the variant detail on this assembly version.

Summary

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	tgv47500673	TogoVar
	COSMIC	COSM3931546	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2013-08-21	criteria provided, multiple submitters, no conflicts	not specified	germline	Detail
Benign	2021-08-10	criteria provided, multiple submitters, no conflicts	maturity-onset diabetes of the young type 3	germline	Detail
Benign	2024-02-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Benign		criteria provided, single submitter	type 2 diabetes mellitus	somatic	Detail
Benign Likely benign	2014-12-08	criteria provided, multiple submitters, no conflicts	Maturity onset diabetes mellitus in young	germline unknown	Detail
Benign	2023-07-07	criteria provided, single submitter	nonpapillary renal cell carcinoma	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	Hypertensive disease	The rs2259820_T (1.14 (1.03-1.26); P = 0.011) and rs2464196_C (1.12 (1.02-1.24);...	BeFree	25057215	Detail
<0.001	Diabetes Mellitus, Non-Insulin-Dependent	The rs2259820_T (1.14 (1.03-1.26); P = 0.011) and rs2464196_C (1.12 (1.02-1.24);...	BeFree	25057215	Detail

Annotation

Descrption	Source	Links
NM_000545.8(HNF1A):c.1375C>T (p.Leu459=) AND not specified	ClinVar	Detail
NM_000545.8(HNF1A):c.1375C>T (p.Leu459=) AND Maturity-onset diabetes of the young type 3	ClinVar	Detail
NM_000545.8(HNF1A):c.1375C>T (p.Leu459=) AND not provided	ClinVar	Detail
NM_000545.8(HNF1A):c.1375C>T (p.Leu459=) AND Type 2 diabetes mellitus	ClinVar	Detail
NM_000545.8(HNF1A):c.1375C>T (p.Leu459=) AND Maturity onset diabetes mellitus in young	ClinVar	Detail
NM_000545.8(HNF1A):c.1375C>T (p.Leu459=) AND Nonpapillary renal cell carcinoma	ClinVar	Detail
The rs2259820_T (1.14 (1.03-1.26); P = 0.011) and rs2464196_C (1.12 (1.02-1.24); P = 0.024) were ass...	DisGeNET	Detail
The rs2259820_T (1.14 (1.03-1.26); P = 0.011) and rs2464196_C (1.12 (1.02-1.24); P = 0.024) were ass...	DisGeNET	Detail

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

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs2259820 dbSNP
Genome: hg19
Position: chr12:121,435,342-121,435,342
Variant Type: snv
Reference Allele: C
Alternative Allele: T
Filtering Status (HGVD): PASS
# of samples (HGVD): 1009
Mean of sample read depth (HGVD): 25.39
Standard deviation of sample read depth (HGVD): 14.78
Number of reference allele (HGVD): 881
Number of alternative allele (HGVD): 1137
Allele Frequency (HGVD): 0.5634291377601586
Gene Symbol (HGVD): HNF1A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): rs2259820
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.544
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 9118
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760
East Asian Chromosome Counts (ExAC): 8566
East Asian Allele Counts (ExAC): 4238
East Asian Heterozygous Counts (ExAC): 2172
East Asian Homozygous Counts (ExAC): 1033
East Asian Allele Frequency (ExAC): 0.49474667289283214
Chromosome Counts in All Race (ExAC): 118824
Allele Counts in All Race (ExAC): 40018
Heterozygous Counts in All Race (ExAC): 25752
Homozygous Counts in All Race (ExAC): 7133
Allele Frequency in All Race (ExAC): 0.33678381471756547

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