chr1:11800250:C>T 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	chr1:11,860,307-11,860,307 View the variant detail on this assembly version.
hg38	chr1:11,800,250-11,800,250

HGVS

MTHFR

Type	Transcript	Protein
RefSeq	NM_005957.4:c.548G>A	NP_005948.3:p.Arg183Gln
Ensemble	ENST00000376583.7:c.671G>A	ENST00000376583.7:p.Arg224Gln
	ENST00000376585.6:c.671G>A	ENST00000376585.6:p.Arg224Gln
	ENST00000376590.9:c.548G>A	ENST00000376590.9:p.Arg183Gln
	ENST00000376592.6:c.548G>A	ENST00000376592.6:p.Arg183Gln
	ENST00000423400.7:c.668G>A	ENST00000423400.7:p.Arg223Gln
	ENST00000641407.1:c.548G>A	ENST00000641407.1:p.Arg183Gln

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
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	tgv296888133	TogoVar
	COSMIC	COSM4865744	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2023-12-28	criteria provided, multiple submitters, no conflicts	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	germline	Detail
Likely pathogenic	2022-07-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Likely pathogenic	2023-09-30	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.548G>A (p.Arg183Gln) AND Homocystinuria due to methylene tetrahydrofolate reduc...	ClinVar	Detail
NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln) AND not provided	ClinVar	Detail
NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln) 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: rs574132670 dbSNP
Genome: hg38
Position: chr1:11,800,250-11,800,250
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121412
Allele Counts in All Race (ExAC): 9
Heterozygous Counts in All Race (ExAC): 9
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 7.412776331828814E-5

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