chr2:189571799:T>G Detail (hg38) (SLC40A1)

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

Genome

Assembly	Position
hg19	chr2:190,436,525-190,436,525 View the variant detail on this assembly version.
hg38	chr2:189,571,799-189,571,799

HGVS

SLC40A1

Type	Transcript	Protein
RefSeq	NM_014585.5:c.430A>C	NP_055400.1:p.Asn144His
Ensemble	ENST00000261024.7:c.430A>C	ENST00000261024.7:p.Asn144His

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

SLC40A1

Type	Database	ID	Link
Gene	MIM	604653	OMIM
	HGNC	10909	HGNC
	Ensembl	ENSG00000138449	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	2001-07-01	no assertion criteria provided	hemochromatosis type 4	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.152	hemochromatosis	Dominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biologic...	BeFree	12547233	Detail
0.141	Iron Overload	We describe here the clinical and biological characteristics of autosomal domina...	BeFree	12547233	Detail
0.562	HEMOCHROMATOSIS, TYPE 4	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_014585.6(SLC40A1):c.430A>C (p.Asn144His) AND Hemochromatosis type 4	ClinVar	Detail
Dominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biological characteristics.	DisGeNET	Detail
We describe here the clinical and biological characteristics of autosomal dominant form of iron over...	DisGeNET	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: rs104893662 dbSNP
Genome: hg38
Position: chr2:189,571,799-189,571,799
Variant Type: snv
Reference Allele: T
Alternative Allele: G

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