chr1:145415483:T>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	chr1:145,415,483-145,415,483
hg38	chr1:146,019,529-146,019,529

HGVS

HJV

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

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Pathogenic
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
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

[No Data.]

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

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: hg19
Position: chr1:145,415,483-145,415,483
Variant Type: snv
Reference Allele: T
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8322
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 115652
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.646629543803825E-6

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