chr1:11854500:C>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	chr1:11,854,500-11,854,500
hg38	chr1:11,794,443-11,794,443 View the variant detail on this assembly version.

HGVS

MTHFR

Type	Transcript	Protein
RefSeq	NM_005957.4:c.1262G>C	NP_005948.3:p.Trp421Ser
Ensemble	ENST00000376592.6:c.1262G>C	ENST00000376592.6:p.Trp421Ser
	ENST00000641407.1:c.1262G>C	ENST00000641407.1:p.Trp421Ser
	ENST00000376590.9:c.1262G>C	ENST00000376590.9:p.Trp421Ser
	ENST00000641820.1:c.527G>C	ENST00000641820.1:p.Trp176Ser
	ENST00000423400.7:c.1382G>C	ENST00000423400.7:p.Trp461Ser
	ENST00000376583.7:c.1385G>C	ENST00000376583.7:p.Trp462Ser
	ENST00000376585.6:c.1385G>C	ENST00000376585.6:p.Trp462Ser

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely 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
Likely pathogenic	2023-08-06	criteria provided, single submitter	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	germline	Detail
Likely pathogenic	2020-10-23	criteria provided, single submitter	not provided	germline	Detail
Likely pathogenic	2023-09-13	criteria provided, single submitter	Neural tube defects, folate-sensitive	unknown	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

Annotation

Annotations

Descrption	Source	Links
NM_005957.5(MTHFR):c.1262G>C (p.Trp421Ser) AND Homocystinuria due to methylene tetrahydrofolate redu...	ClinVar	Detail
NM_005957.5(MTHFR):c.1262G>C (p.Trp421Ser) AND not provided	ClinVar	Detail
NM_005957.5(MTHFR):c.1262G>C (p.Trp421Ser) AND Neural tube defects, folate-sensitive	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: rs200137991 dbSNP
Genome: hg19
Position: chr1:11,854,500-11,854,500
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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