chr1:146018382:G>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	chr1:145,416,630-145,416,630
hg38	chr1:146,018,382-146,018,382

HGVS

HJV

Type	Transcript	Protein
RefSeq	NM_001316767.1:c.976C>T	NP_001303696.1:p.Arg326Ter
	NM_213653.3:c.976C>T	NP_998818.1:p.Arg326Ter
	NM_145277.4:c.637C>T	NP_660320.3:p.Arg213Ter
	NM_213652.3:c.298C>T	NP_998817.1:p.Arg100Ter
	NM_202004.3:c.298C>T	NP_973733.1:p.Arg100Ter
Ensemble	ENST00000336751.11:c.976C>T	ENST00000336751.11:p.Arg326Ter
	ENST00000357836.5:c.637C>T	ENST00000357836.5:p.Arg213Ter
	ENST00000475797.1:c.298C>T	ENST00000475797.1:p.Arg100Ter
	ENST00000497365.5:c.298C>T	ENST00000497365.5:p.Arg100Ter
	ENST00000636675.1:c.298C>T	ENST00000636675.1:p.Arg100Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2024-01-12	criteria provided, conflicting interpretations	hemochromatosis type 2A	germline	Detail
Pathogenic	2023-12-18	criteria provided, single submitter	not provided	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.976C>T (p.Arg326Ter) AND Hemochromatosis type 2A	ClinVar	Detail
NM_213653.4(HJV):c.976C>T (p.Arg326Ter) AND not provided	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: rs74315324 dbSNP
Genome: hg38
Position: chr1:146,018,382-146,018,382
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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