chr1:146018399:C>A Detail (hg38) (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	chr1:145,416,613-145,416,613
hg38	chr1:146,018,399-146,018,399

HGVS

HJV

Type	Transcript	Protein
RefSeq	NM_001316767.1:c.959G>T	NP_001303696.1:p.Gly320Val
	NM_213653.3:c.959G>T	NP_998818.1:p.Gly320Val
	NM_145277.4:c.620G>T	NP_660320.3:p.Gly207Val
	NM_213652.3:c.281G>T	NP_998817.1:p.Gly94Val
	NM_202004.3:c.281G>T	NP_973733.1:p.Gly94Val
Ensemble	ENST00000336751.11:c.959G>T	ENST00000336751.11:p.Gly320Val
	ENST00000357836.5:c.620G>T	ENST00000357836.5:p.Gly207Val
	ENST00000475797.1:c.281G>T	ENST00000475797.1:p.Gly94Val
	ENST00000497365.5:c.281G>T	ENST00000497365.5:p.Gly94Val
	ENST00000636675.1:c.281G>T	ENST00000636675.1:p.Gly94Val

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

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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2021-10-15	criteria provided, multiple submitters, no conflicts	hemochromatosis type 2A	germline	Detail
Pathogenic	2009-11-01	no assertion criteria provided	hemochromatosis type 1	germline	Detail
Pathogenic	2024-01-25	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2018-03-28	criteria provided, single submitter	Juvenile hemochromatosis	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.320	HEMOCHROMATOSIS, TYPE 2A	NA	CLINVAR		Detail
0.121	Hereditary hemochromatosis	NA	CLINVAR		Detail
0.170	hemochromatosis	Among 549 patients we found 10 to have the phenotype of hemochromatosis and 3 ou...	BeFree	21495455	Detail
0.360	hemochromatosis	Among 549 patients we found 10 to have the phenotype of hemochromatosis and 3 ou...	BeFree	21495455	Detail
0.121	Hereditary hemochromatosis	Homozygous G320V mutation in the HJV gene causing juvenile hereditary haemochrom...	BeFree	20593054	Detail
0.245	Juvenile hemochromatosis	Prevalence of the G320V mutation of the HJV gene, associated with juvenile hemoc...	BeFree	15194541	Detail
0.121	Hereditary hemochromatosis	We evaluated the frequency of the most common mutation (G320V) of the HJV gene i...	BeFree	15194541	Detail

Annotation

Annotations

Descrption	Source	Links
NM_213653.4(HJV):c.959G>T (p.Gly320Val) AND Hemochromatosis type 2A	ClinVar	Detail
NM_213653.4(HJV):c.959G>T (p.Gly320Val) AND Hemochromatosis type 1	ClinVar	Detail
NM_213653.4(HJV):c.959G>T (p.Gly320Val) AND not provided	ClinVar	Detail
NM_213653.4(HJV):c.959G>T (p.Gly320Val) AND Juvenile hemochromatosis	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Among 549 patients we found 10 to have the phenotype of hemochromatosis and 3 out of the 10 were fou...	DisGeNET	Detail
Among 549 patients we found 10 to have the phenotype of hemochromatosis and 3 out of the 10 were fou...	DisGeNET	Detail
Homozygous G320V mutation in the HJV gene causing juvenile hereditary haemochromatosis type A. A cas...	DisGeNET	Detail
Prevalence of the G320V mutation of the HJV gene, associated with juvenile hemochromatosis, in Greec...	DisGeNET	Detail
We evaluated the frequency of the most common mutation (G320V) of the HJV gene in the Greek populati...	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: rs74315323 dbSNP
Genome: hg38
Position: chr1:146,018,399-146,018,399
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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