chr1:11796313:TGA> Detail (hg38) (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	chr1:11,856,370-11,856,372
hg38	chr1:11,796,313-11,796,315

HGVS

MTHFR

Type	Transcript	Protein
RefSeq	NM_005957.4:c.671_673delTCA	NP_005948.3:p.Ile226del
Ensemble	ENST00000376583.7:c.794_796delTCA	ENST00000376583.7:p.Ile267del
	ENST00000376585.6:c.794_796delTCA	ENST00000376585.6:p.Ile267del
	ENST00000376590.9:c.671_673delTCA	ENST00000376590.9:p.Ile226del
	ENST00000376592.6:c.671_673delTCA	ENST00000376592.6:p.Ile226del
	ENST00000423400.7:c.791_793delTCA	ENST00000423400.7:p.Ile266del
	ENST00000641407.1:c.671_673delTCA	ENST00000641407.1:p.Ile226del
	ENST00000641820.1:c.-63_-65delTCA

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

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

[No Data.]

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

Annotation

Annotations

Descrption	Source	Links
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: rs786204016 dbSNP
Genome: hg38
Position: chr1:11,796,313-11,796,315
Variant Type: snv
Reference Allele: TGA
Alternative Allele: -

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