chr1:146019530:A>G 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	chr1:145,415,482-145,415,482
hg38	chr1:146,019,530-146,019,530

HGVS

HJV

Type	Transcript	Protein
RefSeq	NM_001316767.1:c.302T>C	NP_001303696.1:p.Leu101Pro
	NM_213653.3:c.302T>C	NP_998818.1:p.Leu101Pro
	NM_145277.4:c.-38T>C
	NM_213652.3:c.-21-830T>C
	NM_202004.3:c.-22+168T>C
Ensemble	ENST00000336751.11:c.302T>C	ENST00000336751.11:p.Leu101Pro
	ENST00000357836.5:c.-38T>C
	ENST00000475797.1:c.-21-830T>C
	ENST00000497365.5:c.-22+168T>C
	ENST00000634927.1:c.134+168T>C
	ENST00000636675.1:c.-22+168T>C

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	2004-10-01	no assertion criteria provided	hemochromatosis type 2A	germline	Detail
Pathogenic	2024-01-31	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-02-07	criteria provided, single submitter	HJV-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.320	HEMOCHROMATOSIS, TYPE 2A	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_213653.4(HJV):c.302T>C (p.Leu101Pro) AND Hemochromatosis type 2A	ClinVar	Detail
NM_213653.4(HJV):c.302T>C (p.Leu101Pro) AND not provided	ClinVar	Detail
NM_213653.4(HJV):c.302T>C (p.Leu101Pro) AND HJV-related disorder	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: rs74315327 dbSNP
Genome: hg38
Position: chr1:146,019,530-146,019,530
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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