chr1:145415418:A>C Detail (hg19) (HJV)

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

Genome

Assembly	Position
hg19	chr1:145,415,418-145,415,418
hg38	chr1:146,019,594-146,019,594

HGVS

HJV

Type	Transcript	Protein
RefSeq	NM_145277.4:c.-103A>C
	NM_202004.3:c.-22+103A>C
	NM_001316767.1:c.237A>C	NP_001303696.1:p.Leu79=
	NM_213653.3:c.237A>C	NP_998818.1:p.Leu79=
	NM_213652.3:c.-21-895A>C
Ensemble	ENST00000634927.1:c.134+103A>C
	ENST00000357836.5:c.-103A>C
	ENST00000497365.5:c.-22+103A>C
	ENST00000336751.11:c.237A>C	ENST00000336751.11:p.Leu79=
	ENST00000636675.1:c.-22+103A>C
	ENST00000475797.1:c.-21-895A>C

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

HJV

Type	Database	ID	Link
Gene	MIM	608374	OMIM
	HGNC	4887	HGNC
	Ensembl	ENSG00000168509	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
0.320	HEMOCHROMATOSIS, TYPE 2A	NA	CLINVAR		Detail
0.320	HEMOCHROMATOSIS, TYPE 2A	Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene en...	UNIPROT	14982867	Detail

Annotation

Annotations

Descrption	Source	Links
NA	DisGeNET	Detail
Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin.	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: rs28940586 dbSNP
Genome: hg19
Position: chr1:145,415,418-145,415,418
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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