chr1:11856370:T>G Detail (hg19) (MTHFR)

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

Genome

Assembly	Position
hg19	chr1:11,856,370-11,856,370
hg38	chr1:11,796,313-11,796,313 View the variant detail on this assembly version.

HGVS

MTHFR

Type	Transcript	Protein
RefSeq	NM_005957.4:c.673A>C	NP_005948.3:p.Ile225Leu
Ensemble	ENST00000376590.9:c.673A>C	ENST00000376590.9:p.Ile225Leu
	ENST00000376592.6:c.673A>C	ENST00000376592.6:p.Ile225Leu
	ENST00000641407.1:c.673A>C	ENST00000641407.1:p.Ile225Leu
	ENST00000376585.6:c.796A>C	ENST00000376585.6:p.Ile266Leu
	ENST00000423400.7:c.793A>C	ENST00000423400.7:p.Ile265Leu
	ENST00000641820.1:c.-63A>C
	ENST00000376583.7:c.796A>C	ENST00000376583.7:p.Ile266Leu

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

MTHFR

Type	Database	ID	Link
Gene	MIM	607093	OMIM
	HGNC	7436	HGNC
	Ensembl	ENSG00000177000	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
Pathogenic		no assertion criteria provided	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.362	HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY	NA	CLINVAR		Detail
0.012	Malignant neoplasm of lung	Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C...	BeFree	17259654	Detail
0.041	Malignant neoplasm of lung	Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C...	BeFree	17259654	Detail
0.005	Malignant neoplasm of lung	Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C...	BeFree	17259654	Detail
0.057	Malignant neoplasm of lung	Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C...	BeFree	17259654	Detail
0.002	Carcinoma of lung	Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C...	BeFree	17259654	Detail
0.033	Malignant neoplasm of lung	Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C...	BeFree	17259654	Detail
0.009	Carcinoma of lung	Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C...	BeFree	17259654	Detail
0.002	Carcinoma of lung	Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C...	BeFree	17259654	Detail
0.007	Carcinoma of lung	Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C...	BeFree	17259654	Detail
<0.001	Carcinoma of lung	Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C...	BeFree	17259654	Detail
0.016	Malignant neoplasm of lung	Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C...	BeFree	17259654	Detail
0.007	Carcinoma of lung	Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C...	BeFree	17259654	Detail

Annotation

Annotations

Descrption	Source	Links
NM_005957.5(MTHFR):c.673A>C (p.Ile225Leu) AND Homocystinuria due to methylene tetrahydrofolate reduc...	ClinVar	Detail
NA	DisGeNET	Detail
Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR...	DisGeNET	Detail
Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR...	DisGeNET	Detail
Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR...	DisGeNET	Detail
Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR...	DisGeNET	Detail
Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR...	DisGeNET	Detail
Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR...	DisGeNET	Detail
Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR...	DisGeNET	Detail
Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR...	DisGeNET	Detail
Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR...	DisGeNET	Detail
Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR...	DisGeNET	Detail
Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR...	DisGeNET	Detail
Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR...	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: rs200100285 dbSNP
Genome: hg19
Position: chr1:11,856,370-11,856,370
Variant Type: snv
Reference Allele: T
Alternative Allele: G

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