chr1:11855182:C>T 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	chr1:11,855,182-11,855,182
hg38	chr1:11,795,125-11,795,125 View the variant detail on this assembly version.

HGVS

MTHFR

Type	Transcript	Protein
RefSeq	NM_005957.4:c.1004G>A	NP_005948.3:p.Arg335His
Ensemble	ENST00000376592.6:c.1004G>A	ENST00000376592.6:p.Arg335His
	ENST00000641407.1:c.1004G>A	ENST00000641407.1:p.Arg335His
	ENST00000376590.9:c.1004G>A	ENST00000376590.9:p.Arg335His
	ENST00000423400.7:c.1124G>A	ENST00000423400.7:p.Arg375His
	ENST00000641820.1:c.269G>A	ENST00000641820.1:p.Arg90His
	ENST00000376583.7:c.1127G>A	ENST00000376583.7:p.Arg376His
	ENST00000376585.6:c.1127G>A	ENST00000376585.6:p.Arg376His

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	Conflicting classifications of pathogenicity
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
	COSMIC	COSM4970475	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2022-10-17	criteria provided, conflicting interpretations	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	germline	Detail
Pathogenic	2023-10-26	criteria provided, single submitter	Neural tube defects, folate-sensitive	unknown	Detail
Uncertain significance	2024-03-21	criteria provided, single submitter	not specified	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

Annotation

Annotations

Descrption	Source	Links
NM_005957.5(MTHFR):c.1004G>A (p.Arg335His) AND Homocystinuria due to methylene tetrahydrofolate redu...	ClinVar	Detail
NM_005957.5(MTHFR):c.1004G>A (p.Arg335His) AND Neural tube defects, folate-sensitive	ClinVar	Detail
NM_005957.5(MTHFR):c.1004G>A (p.Arg335His) AND not specified	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: rs543016186 dbSNP
Genome: hg19
Position: chr1:11,855,182-11,855,182
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8636
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): 121106
Allele Counts in All Race (ExAC): 6
Heterozygous Counts in All Race (ExAC): 6
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 4.9543375225009494E-5

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