chr19:10273372:T>G Detail (hg19) (DNMT1)

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

Genome

Assembly	Position
hg19	chr19:10,273,372-10,273,372
hg38	chr19:10,162,696-10,162,696 View the variant detail on this assembly version.

HGVS

DNMT1

Type	Transcript	Protein
RefSeq	NM_001318730.1:c.931A>C	NP_001305659.1:p.Ile311Leu
	NM_001379.3:c.931A>C	NP_001370.1:p.Ile311Leu
	NM_001130823.2:c.979A>C	NP_001124295.1:p.Ile327Leu
	NM_001318731.1:c.979A>C	NP_001305660.1:p.Ile327Leu
Ensemble	ENST00000340748.8:c.931A>C	ENST00000340748.8:p.Ile311Leu
	ENST00000359526.9:c.979A>C	ENST00000359526.9:p.Ile327Leu
	ENST00000676610.1:c.931A>C	ENST00000676610.1:p.Ile311Leu
	ENST00000677946.1:c.931A>C	ENST00000677946.1:p.Ile311Leu
	ENST00000678804.1:c.931A>C	ENST00000678804.1:p.Ile311Leu
	ENST00000679103.1:c.931A>C	ENST00000679103.1:p.Ile311Leu
	ENST00000679313.1:c.931A>C	ENST00000679313.1:p.Ile311Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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Links

DNMT1

Type	Database	ID	Link
Gene	MIM	126375	OMIM
	HGNC	2976	HGNC
	Ensembl	ENSG00000130816	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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	azoospermia	To explore the relationship between DNMT1 and spermatogenesis impairment, polymo...	BeFree	24631383	Detail
0.004	colon carcinoma	However, statistically significant interactions modifying CC risk were observed ...	BeFree	22961839	Detail
0.003	Malignant tumor of colon	However, statistically significant interactions modifying CC risk were observed ...	BeFree	22961839	Detail
<0.001	colon carcinoma	However, statistically significant interactions modifying CC risk were observed ...	BeFree	22961839	Detail
<0.001	Malignant tumor of colon	However, statistically significant interactions modifying CC risk were observed ...	BeFree	22961839	Detail
<0.001	Malignant neoplasm of esophagus	There was an inverse association between DNMT1 rs2228612 and esophageal cancer (...	BeFree	25337902	Detail
<0.001	Esophageal Neoplasms	There was an inverse association between DNMT1 rs2228612 and esophageal cancer (...	BeFree	25337902	Detail
<0.001	esophageal carcinoma	There was an inverse association between DNMT1 rs2228612 and esophageal cancer (...	BeFree	25337902	Detail

Annotation

Annotations

Descrption	Source	Links
To explore the relationship between DNMT1 and spermatogenesis impairment, polymorphic distributions ...	DisGeNET	Detail
However, statistically significant interactions modifying CC risk were observed for DNMT1 I311V with...	DisGeNET	Detail
However, statistically significant interactions modifying CC risk were observed for DNMT1 I311V with...	DisGeNET	Detail
However, statistically significant interactions modifying CC risk were observed for DNMT1 I311V with...	DisGeNET	Detail
However, statistically significant interactions modifying CC risk were observed for DNMT1 I311V with...	DisGeNET	Detail
There was an inverse association between DNMT1 rs2228612 and esophageal cancer (any G versus A/A, SB...	DisGeNET	Detail
There was an inverse association between DNMT1 rs2228612 and esophageal cancer (any G versus A/A, SB...	DisGeNET	Detail
There was an inverse association between DNMT1 rs2228612 and esophageal cancer (any G versus A/A, SB...	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: rs2228612 dbSNP
Genome: hg19
Position: chr19:10,273,372-10,273,372
Variant Type: snv
Reference Allele: T
Alternative Allele: G

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